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Hereditary neuropathies

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Hereditary neuropathies
Syndromic Hereditary Neuropathies
Motor & Sensory Neuropathies
Autonomic Neuropathies
Spinal Muscular Atropthy
thickened nerves
Axonal Neuropathies
peroiphreral

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Hereditary neuropathies

  1. 1. HEREDITARY NEUROPATHIES Classification & Diagnosis BY AMR HASAN ELHASANY Ass. Lecturer of Neurology –Cairo University 2008
  2. 2. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  3. 3. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  4. 4. 1) Hereditary Motor & Sensory Neuropathies =CMT  CMT Type 1  CMT Type 2  CMT Type 3  CMT Type 4  CMT Type 5  CMT Type 6  CMT Type 7  XL CMT
  5. 5. 1) Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy (CMT) Type1: Subtypes Disorder Pattern of inheritance Protein Location CMT 1A AD PMP-22 17p11 CMT 1B AD P0 1q22 CMT 1C AD LITAF 16p13 CMT 1D AD EGR2 10q21 CMT 1E AD P0 protein; 1q22 CMT 1F AD Neurofilament light chain 8p21
  6. 6. 1) Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy (CMT) Type 1: Clinical Picture (CMT) Type 1A:  1st or 2nd decade.  Symmetrical distal LL weakness (intrinsic foot, peroneal & ant tibial muscles)  Champaign bottle shape  UL involvement in 2/3 of cases.  ↓ Reflexes  Hypertrophic nerves  ± UL Tremors = (Rousy lévy syndrome)  Retain ambulance for life
  7. 7. 1) Hereditary Motor & Sensory Neuropathies (CMT) Type 1B, 1C, 1D,1E & 1F: Clinically similar to 1A with varying severity Electrophysiology: Demyelinating ↓ NCV ( Cut off between CMT 1 & 2 38 m/sec) Biopsy: Onion bulb appearance
  8. 8. 1)Hereditary Motor & SensoryNeuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 2 : Subtypes Disorder Pattern of inheritance Gene Location CMT 2A AD KIF1Bβ 1p36 CMT 2B AD RAB7 3q13 CMT 2C AD 12q23-q24 CMT 2D AD GARS 7p15 CMT 2E AD NF-68 8p21 CMT 2F AD HSPB1 (HSP 27) 7q11 CMT 2G AD 12q12 CMT 2L AD HSPB8 12q24 AR-CMT2A AR Lamin A/C 1q21 AR-CMT2B AR 19q13 Andermann AR KCC3 15q13
  9. 9. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 2 : Clinical picture Disorder Clinical picture CMT 2A Onset of neuropathy by 10yr of age; progresses to distal weakness and atrophy in legs; mild sensory disturbance CMT 2B Onset 2nd- 3rd decade; severe sensory loss with distal ulcerations. CMT 2C Vocal cord and diaphragmatic weakness
  10. 10. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 2 : Clinical picture CMT 2D Arm>leg weakness; onset in 2nd-3rd decade. CMT 2E Variable onset and severity; ranging from DSS-like to CMT-2 phenotype CMT 2F Severe distal weakness & Fasciculations CMT 2G Proximal >distal weakness CMT 2L Onset 15 to 33 years , Distal weakness
  11. 11. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 2 : Clinical picture AR-CMT2A Onset of neuropathy in 2nd decade; progresses to severe distal weakness and atrophy AR-CMT2B 3rd & 4th decade,Distal weakness Andermann 1st decade,Hypotonia
  12. 12. 1) Hereditary Motor & Sensory Neuropathies b- Hereditary Motor & Sensory Neuropathy (CMT) Type 2: Electrophysiology: Axonal SNAP: ↓ Amplitude or even absent Biopsy: Preferential loss of large myelinated fibers without significant demyelination, there may be clusters of of regenerating myelinated fibers
  13. 13. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 3 : Subtypes & Clinical picture Disorder Locus;Gene Clinical picture DSS=Dejerene- Sottas syndrome PMP22,MPZ,GJB DGR2,NEFL (dominant) PRX. MTMR2 (recessive) Onset before 3yr age with delayed motor development, severe Weakness, atrophy, and sensory loss Congenital Hypomyelinating Neuropathy (CHN) PMP22, MPZ (dominant); EGR2 (recessive) Hypotonic at birth, developing into clinical picture often similar to DSS
  14. 14. 1) Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy (CMT) Type 3 : Electrophysiology: Demyelinating ↓ NCV < 10 m/sec Biopsy: Prominent Onion bulb appearance
  15. 15. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 4 : Subtypes Disorder Pattern of inheritance Gene; Location CMT-4A AR GDAPI 8q13-q21; CMT-4B1 AR MTMR2 11q22; CMT-4B2 AR SBF2 11p15; CMT-4C AR KIAA1985 5q23-33; CMT-4D AR NDRG1 8q24;
  16. 16. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 4 : Disorder Pattern of inheritance Gene; Location CMT 4E AR EGR2 10q21 CMT 4F AR Periaxin 19q13 HMSN-Russe (4G) AR 10q23 CMT 4H AR FGD4 12q12 CMT 4J AR FIG4 6q21
  17. 17. 1)Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy(CMT)Type 4 : Subtypes Disorder Clinical Picture CMT-4A Early-childhood onset, progression to wheelchair dependency; both demyelinating and axonal phenotypes CMT-4B1 Early-childhood onset, may progress to wheelchair dependency; focally folded myelin sheaths CMT-4B2 Childhood onset; progressive; focally folded myelin sheaths; glaucoma CMT-4C Infantile to childhood onset; progressing to wheelchair dependency CMT-4D Childhood onset; severe disability by 50yr; hearing loss, dysmorphic features
  18. 18. 1) Hereditary Motor & Sensory Neuropathies Hereditary Motor & Sensory Neuropathy (CMT) Type 4 : Electrophysiology: Demyelinating ↓ NCV 20-30 m/sec Biopsy: focally folded myelin sheaths (tomacula) in type CMT-4B1 CMT-4B2 Segmental demyelination Onion bulb appearance Myelinated axon loss: Large > Small
  19. 19. 1) Hereditary Motor & Sensory Neuropathies XL Hereditary motor & sensory neuropathy (CMT) Xq13.1; CJB1 (Connexin 32) Clinically: Phenotypically similar to CMT 1 Males are more severely affected Affected females -- mild or asymptomatic Transient ataxia ,dysarthria CNS white matter abnormalities on MRI studies Electrophysiology: ↓ NCV in males ↓ NCV & amplitudes in females Abnormal BAEP
  20. 20. 1) Hereditary Motor & Sensory Neuropathies  CMT 5: HMSN + Pyramidal signs  CMT 6: HMSN + Optic atrophy  CMT 7: HMSN + Retinitis Pigmentosa
  21. 21. Charcoat (left) & Babinski at the Salpêtrière clinic
  22. 22. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  23. 23. 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) Genetics AD , 17P11.2 ,PMP 22 Clinically: 2nd or 3rd decade ↑ susceptibilityof PN to mechanical traction ,compression or minor trauma Recurrent sudden painless episodes of isolated mononueropathy commonly affecting Common peroneal, brachial plexus,radial& median nerves Complete recovery in days or weeks Less common presentations -Progressive monoeuropathy -Chronic sensory polyneuropathy -Chronic sensory motor neuropathy -Transient positional sensory symptoms
  24. 24. 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) Electrophysiology: Prolonged distal motor latencies with focal slowing of ulnar & fibular nerve at the compression sites Diffuse reduction of sensory nerve action potential amplitudes Biopsy: Focal sausage-like thickening of myelin termed Tomacula due to redundant myelin loop as a result of overgrowth of myelin spiral
  25. 25. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  26. 26. 3- Hereditary Sensory & Autonomic Neuropathies (HSAN) Subtypes Disorder Pattern of inheritance Gene Location I AD SPTLC1 9q22 II AR HSN2 12p13 III AR IKBKAP 9q31 IV AR TRKA/ NGF receptor 1q21 V AR
  27. 27. 3- Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type I Clinically: 2nd  4th decade Superficial & deep sensory loss affecting feet & legs  acrodystrophic neuropathy= Acromutilation Lancinating or shooting pain ± Distal muscle weakness ( D.D. CMT type 2B) Electrophysiology: Axonal SNAP Amplitude ↓ Motor CV  NL but CMAP Amplitude may ↓ in late stages Biopsy: Sural N biopsy : Severe loss of unmyelinted & small myelinated axons and to lesser degree loss of large myelinated fibers.
  28. 28. 3- Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type II Clinically: Started in infancy Panmodal sensory affection -> Acromutilation Dysautonomia Variable features : spastic para , retinitis pigmentosa ,motor weakness or keratitis Electrophysiology: Axonal SNAP Amplitude ↓ Biopsy: Sural N biopsy : loss of large & small axons
  29. 29. 3- Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type III =Familial Dysautonomia = Riley Day Syndrome Clinically: Childern of Ashkenazi Jewish ethnicity Autonomic > sensory Begin at birth ( poor feeding, esophageal dysmotility ,vomiting ,recuurent fever & chest infection) Emotional stimuli provoke episodic hypertension, profuse sweating &marked skin blotching due to defective autonomic control Defective lacrimation ,absence of tongue papillae Hypotonia delayed motor milestones, gait ataxia, stunted growth & scoliosis Potentially life threatening condition due to aspiration pneuomonia, autonomic crises
  30. 30. 3- Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type III =Familial Dysautonomia = Riley Day Syndrome Electrophysiology: Axonal SNAP Amplitude ↓ Biopsy: Sural N biopsy : loss of small & large axons
  31. 31. Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) type IV Clinically: Congenital insensitivity to pain Anhidrosis Recurrent fever Self mutilating behaviour Mild MR Loss of C axons Electrophysiology: SNAP are preserved Biopsy: Sural N biopsy : loss of myelinted & unmyelinated axons
  32. 32. Hereditary Sensory & Autonomic Neuropathies (HSAN) Hereditary Sensory & Autonomic Neuropathies (HSAN) typeV Clinically: Congenital, or Early childhood Absence of pain No anhidrosis Loss of Aδ-axons Electrophysiology: SNAP are preserved Biopsy: Sural N biopsy : SELECTIVE loss of small myelinted fibers
  33. 33. Other Hereditary Sensory Neuropathies Disorder gene locus inheritance onset clinical Absent pain NGF-b 1p13 Recessive Early childhood to Adult Absence of pain No anhidrosis Inability to experience pain SCN 9A 2q24 Recessive Congenital Absence of pain No anhidrosis Erythromelalgia SCN 9A 2q24 Dominant Childhood Pain, distal Episodic Biemond ataxia Dominant 19 to 30 years Sensory loss Ulcero-mutilation Dominant 5 to 30 years Acromutilation Spastic paraparesis 5p15 Recessive 1 to 5 years Acromutilation
  34. 34. Other Hereditary Sensory Neuropathies  Sensory PN + Hearing loss: Connexin-31; 1p35  Sensory PN + Deafness: Xq23  HSMN + Ataxia: 7q22  HSN + Cough & GE reflux
  35. 35. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  36. 36. 4- Distal Hereditary Motor Neuropathies (HMN)= Distal Spinal Muscular Atropthy (SMA). Subtypes &Clinical picture: Disorder Gene/Locus Clinical picture HMN-5 7p; GARS Arm> leg weakness; onset in 2nd- 3rd decade; no sensory involvement HMN 7 2q14 Vocal cord involvement HMARD 11q13; Distal infantile SMA with diaphragm paralysis HMNJ 9p21; 1-p12 Childhood-onset distal weakness (Jerash type) HMN 2p13; DCTNl Progressive hand >leg weakness and atrophy, vocal fold paralysis & facial weakness
  37. 37. HEREDITARY NEUROPATHIES A) Non Syndromic Hereditary Neuropathies: 1- Hereditary Motor & Sensory Neuropathies (CMT). 2- Hereditary Neuropathy with liability to Pressure Palsy (HNPP) 3-Hereditary Sensory & Autonomic Neuropathies (HSAN). 4- Distal Hereditary Motor Neuropathies (HMN). B) Syndromic Hereditary Neuropathies:
  38. 38. B) Syndromic Hereditary Neuropathies 1) Demyelinating Dominant Disorder Gene / Locus Associated features Wardeenburg type IV 22q13; SOX10 CNS & PNS dysmyelination Hirschsprung disease
  39. 39. B) Syndromic Hereditary Neuropathies 2) Demyelinating Recessive Disorder Gene / Locus Associated features Metachromatic leukodystrophy 22q13; (ArylsulfataseA) Optic atrophy Mental retardation Hypotonia Globoid cell leukodystrophy (Krabbe's) 14q31;(Galactosyl ceramide - galactosidease) Spasiticity, Optic atrophy Mental retardation
  40. 40. B) Syndromic Hereditary Neuropathies 2) Demyelinating Recessive Disorder Gene / Locus Associated features Refsum's disease 10 pter-p11.2 PAHX (Phytanoyl- CoA hydroxylase) & 7q21-22; PEX7 (Peroxin-1) Deafness Retinting pigmentosa, Ichthyosis heart failure Merosin deficiency 6q 22; LAMA2 (laminin-2) Neuropathy and muscular dystrophy
  41. 41. B) Syndromic Hereditary Neuropathies 3) Axonal dominant Disorder Gene / Locus Associated features Familial Amyloidotic Neuropathy (FAP-I & FAP-II 18q21; TTR (Transthyretin) Painful axonal neuropathy; other organs involved; FAP-II also causes carpal tunnel syndrome FAP-III"lowa" 11q23; ApoAl (Apoliporotein A1) Nephropathy, liver disease FAP- IV "Finnish" 9q32-q34; AGel (Gelsolin) Corneal dystrophy, cranial neuropathies
  42. 42. B) Syndromic Hereditary Neuropathies 3) Axonal dominant Disorder Gene / Locus Associated features Acute Intermittent Porphyria 11q23.3; PBGD (Porphobillino gen deaminase Acute neuropathy follows abdominal crises; psychosis; depression; dementia; seizures Coproporphyria 3q12;CPO (Copropophrin ogen 3 oxidease) Skin photosensitivity, psychosis, crises of acute neuropathy and abdominal pain Variegate Porphyria 3q12;CPO (Coproporphur inogen 3 oxidease) South Africa; similar to acute intermittent prophyria
  43. 43. B) Syndromic Hereditary Neuropathies 3) Axonal dominant Disorder Gene / Locus Associated features Fabry's disease Xq22;GLA (galactosidase) Angiokeratoma Pain Stroke Renal failure Cardiomyopathy Hereditary Neuralgic Amyotrophy 17q25 Painful episodes of brachial palsy, dysmorphic features
  44. 44. B) Syndromic Hereditary Neuropathies 4) Axonal Recessive Disorder Gene / Locus Associated features Hereditary tyrosinemia type 1 15q23-q25; FAH (Fumaryl- Acetoacetase) Hepatic and Renal disease, Cardiomyopathy Giant axonal neuropathy 16q24; GANI (Gigaxonin) Kinky/curly hair CNS features UMNL, Optic atrophy, Nystagmus,Ataxia Mental retardation,
  45. 45. B) Syndromic Hereditary Neuropathies 4) Axonal Recessive Disorder Gene / Locus Associated features Abetalipoproteinemia 4q24; MTP (microsomal triglyceride transfer protein) Ataxia, Acanthocytosis Analphalipoproteinemia (Tangier's disease) 9q31; ABC1 (AtP- binding cassette transporter) Orange tonsils, Organomegaly Atherosclerosis , Painless ulcerations
  46. 46. B) Syndromic Hereditary Neuropathies 4) Axonal Recessive Disorder Gene / Locus Associated features Cowchock's syndrome Xq24-26 Mental retardation (60%) Deafness Congenital Catarcts, Facial Dysmophism Neuropathy (CCFDN; 18 q23-qter; CTDP1 (intron 6) Cataracts, microcornea, Facial dysmorphism Skeletal deformities
  47. 47. Other Syndromic Hereditary Axonal Neuropathies  Ataxia telangectasia  Cerebrotendinous xanthomatosis  Chediak-Higashi  Friedreich Ataxia  Glycogenosis, Type 3  Mitochondrial: MNGIE; NARP; Leigh; Other  Neuroacanthcytosis  Brachial Plexopathy
  48. 48. Diagnosis Of Hereditary Neuropathies Based on Clinical Presentation and Electrophysiological Findings
  49. 49. Diagnosis Of Hereditary Neuropathies  History taking (hereditary cause is suggested)  Examination  Lab work to exclude causes of acquired neuropathies  Neurophysiological study  Biopsy  Genetic study
  50. 50. Recurrent Hereditary Neuropathies  Hereditary Neuropathies Liability to Pressure Palsy  Brachial Plexopathy  Refsum  Porphyria
  51. 51. Hereditary Neuropathies affecting UL>LL  HMN 5A  CMT 2D  HMN 5B  Amyloidosis (Carpal tunnel syndrome)
  52. 52. Hereditary Neuropathies Affecting Motor Neurones  HMN-5A  HMN 7  HMARD  HMNJ  HMN
  53. 53. Hereditary Neuropathies associated with skin manifestations  Amyloidosis :Petechiae or purpura  Refsum: Ichthyosis  Sensory neuronopathies: Ulcers  Coproporphyria: Skin photosensitivity,  Fabry: Angiokeratoma
  54. 54. Hereditary Neuropathies Affecting eye  CMT-4B2 : Glaucoma  CMT 6 : optic atrophy  CMT 7 : RP  Mitochondrial disorders  Leukodystrophies: optic atrophy  Refsum: RP  FAP- IV: Corneal dystrophy  Congenital Catarcts, Facial Dysmophism Neuropathy (CCFDN) : Cataract  Ataxia Telangectasia
  55. 55. Hereditary Neuropathies associated with Hearing Loss  X-linked  Cowchock  HMSN X (Connexin 32)  Recessive  CMT 4D (Lom)  Refsum  Xeroderma Pigmentosum  CEDNIK  Dominant  CMT 1A  CMT 1B  CMT 2E  CMT-4D  Dejerine-Sottas (Dominant)
  56. 56. Hereditary Neuropathies associated with thickened nerves  Demyelinating  HMSN I & III  Refsum  Neurofibromatosis
  57. 57. Hereditary Neuropathies associated with GIT troubles  HSN + Cough & GE reflux  Mitochondrial: MNGIE & Variants  Riley-Day (HSAN3)
  58. 58. Hereditary Neuropathies associated with Facial Nerve palsy  Amyloid: Gelsolin  Tangier disease
  59. 59. Hereditary Neuropathies associated with Dysmorphic Features  CMT-4D  Hereditary Neuralgic Amyotrophy  Congenital Catarcts, Facial Dysmophism Neuropathy (CCFDN;
  60. 60. Hereditary Neuropathies associated with Vocal cord affection  HMSN II C  HMN 7
  61. 61. Hereditary Axonal Neuropathies  HMSN: II ,V ,VI  HSAN  Spinal muscular atrophy: Proximal; Distal  Amyloidosis  Porphyria  Fabry's  Hereditary tyrosinemia type 1  Giant Axonal Neuropathy  A-beta-lipoproteinemia  An-α-lipoproteinemia (Tangier's)  Cowchock's syndrome  Congenital Catarcts, Facial Dysmophism Neuropathy (CCFDN;  Ataxia telangectasia  Cerebrotendinous xanthomatosis  Chediak-Higashi Friedreich Ataxia  Mitochondrial: MNGIE; NARP; Leigh; Other
  62. 62. Hereditary Demyelinating Neuropathies  HMSN type I, III, IV, XL  HNNP  Leukodystrophies  Refsum  Wardeenburg type IV
  63. 63. Clinical Case  40ys old female patient presenting with gradual progressive weakness both UL & LL, D>P, UL>LL associated with distal wasting  NC study showed axonal motor affection with no sensory affection keywords  UL involvement  Pure motor  Axonal
  64. 64. Hereditary Neuropathies Affecting Motor Neurones  HMN-5A  HMN 7  HMARD  HMNJ  HMN
  65. 65. Hereditary Neuropathies affecting UL>LL  HMN-5A  CMT 2D  HMN 5B  Amyloidosis (Carpal tunnel syndrome)
  66. 66. Hereditary Axonal Neuropathies  HMSN: II  HSAN  HMN =Spinal muscular atrophy: Proximal; Distal  Amyloidosis  Porphyria  Fabry's  Hereditary tyrosinemia type 1  Giant Axonal Neuropathy  A-beta-lipoproteinemia  An-α-lipoproteinemia (Tangier's)  Cowchock's syndrome  Congenital Catarcts, Facial Dysmophism Neuropathy (CCFDN;  Ataxia telangectasia  Cerebrotendinous xanthomatosis  Chediak-Higashi Friedreich Ataxia  Mitochondrial: MNGIE; NARP; Leigh; Other
  67. 67. Online Mendelain Inheritance in Man (OMIM): www.ncbi.nlm.nih.gov/Omim/ Neuromuscular: www.neuro.wustl.edu/neuromuscular/
  68. 68. THANK YOU

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