Home
Index
Search
Links
Pathology
Molecules
Syndromes
  Muscle
NMJ
Nerve
Spinal
Ataxia
Antibody & Biopsy
Patient Information


HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)

CMT & HMSN: Demyelinating

  Dominant
    CMT 1A: PMP-22; 17p11
    CMT 1B: P0 protein; 1q22
    CMT 1C: LITAF; 16p13
    CMT 1D: EGR2; 10q21
    CMT 1E: P0 protein; 1q22
    CMT 1F: NEFL; 8p21
    HNPP: PMP-22 deletion; 17p11
    HMSN 3 (Dejerine-Sottas)
        PMP-22; P0; 8q23; EGR2
    Thermosensitive
    PNS & CNS hypomyelin: SOX10; 22q13
    Sensory PN + Hearing loss: GJB3; 1p35
    Hypomyelination: ARHGEF10; 8p23

  Recessive
    CMT 4A: GDAP1; 8q21
    CMT 4B: MTMR2; 11q23
    CMT 4B2: SBF2; 11p15
    CMT 4C: SH3TC2 (KIAA1985); 5q32
    CMT 4D (Lom): NDRG1; 8q24
    CMT 4E: EGR2; 10q21
    CMT 4F: Periaxin; 19q13
    HMSN-Russe (4G): HK1; 10q22
    CMT 4H: FGD4; 12q12
    CMT 4J: FIG4; 6q21
    HMSN 3 (Dejerine-Sottas)
        P0; PMP-22; EGR2; Periaxin
    HMSN + Juvenile glaucoma
    Cataracts (CCFDN): CTDP1; 18qter
    Cockayne's: 5
    Congenital hypomyelinating
        P0, PMP-22 & EGR-2
    Farber lipogranulomatosis: ASAH; 8p22
    CDG1a: PMM2; 16p13
    Krabbe: GALC; 14q31
    MLD: ARSA; 22q13
    PMP-22 point mutations
    Refsum's disease
        Childhood: PHYH; 10pter-p11.2
        Adolescent-Adult: PEX7; 6q22
        Infant: PEX1; 7q21
        Refsum-like: 20p11
    HMSN + CNS: Heterogeneous

  X-linked
    Connexin-32 (GJB1): Xq13
    Pyramidal signs
CMT & HMSN: Axonal

  Dominant
    CMT 2A1: KIF1B; 1p36
    CMT 2A2: MFN2; 1p36
    CMT 2B: RAB7; 3q13-q22
    CMT 2C: 12q23-q24
    CMT 2D: GARS; 7p15
    CMT 2E: Neurofilament light chain; 8p21
    CMT 2F/ Distal HMN: HSPB1; 7q11-q21
    CMT 2G: 12q12
    CMT 2I: P0; 1q22
    CMT 2J: P0; 1q22
    CMT 2K: GDAP1; 8q21
    CMT 2L: HSPB8; 12q24
    HMSN-Proximal: 3q13
    CMT 2 + Cataracts: DNM2; 19p12
    HMSN 5 + Pyramidal signs: MFN2; 1p36
    HMSN + Optic atrophy
    HMSN + Deafness
      P0
      Connexin-31 (GJB3)
      Eye ± Ear dysfunction
    HMSN 6 + Visual loss: MFN2; 1p36
    HSMN + Ulcero-mutilation
    HSAN I
    HSMN + Ataxia: IFRD1; 7q22
    HMN 5B: BSCL2; 11q13

  Recessive
    AR-CMT2A: Lamin A/C; 1q21
    AR-CMT2B: MED25; 19q13.3
    AR-CMT + Pyramidal signs (CMT 2H): 8q21.3
    AR-CMT + Hoarseness (CMT 2K): GDAP1; 8q21
    AR-CMT, Severe & Early onset: NEFL; 8p21
    AR-CMT/Distal HMN: HSPB1; 7q11-q21
    Acrodystrophy
    Andermann (Corpus callosum Δ): KCC3; 15q13
    Ataxia with neuropathy: TDP1; 14q31
    Giant axonal: Gigaxonin; 16q24
    HMSN + Optic neuropathy ± Deafness
    Infantile axonal + Respiratory failure
    Lethal Neonatal
    Neuroaxonal dystrophy
    Ouvrier: Early childhood onset
    Syndromes
      Childhood onset HMSN
      CNS + HMSN
      Deafness + HMSN

  X-linked
    Connexin-32 (Females): Xq13
    2: Xp22.2
    3: Xq26
    4 (Cowchock): Xq24
    5: PRPS1; Xq22
    Sensory PN + Deafness: Xq23
CMT + Intermediate NCV

  Dominant
    CMT DIA: 10q24
    CMT DIB: DNM2; 19p12
    CMT DIC: tyrosyl-tRNA synthetase; 1p34
    CMT DI3: P0; 1q22
    CMT-X (Semi-dominant)
    CMT 2E: Neurofilament light chain; 8p21

  Recessive
    CMT RIA: GDAP1; 8q21.1


Charcot-Marie-Tooth (CMT)

  Features
    Comparative
    General
    Pathology
  External link: Mutation database

Other related names or disorders

  α-Methylacyl-CoA racemase (AMACR)
  Brachial plexopathy, Hereditary
  Childhood onset neuropathies
  CNS & Cranial nerve disorders
 
Complex clinical syndromes
  Congenital Hypomyelinating
    EGR2: 10q21
    P0: 1q22
    PMP-22: 17p11
    ARHGEF10; 8p23
  Cowchock
  Dejerine-Sottas (HMSN 3)
  Focally folded myelin sheaths
    CMT 4B: MTMR2; 11q23
    CMT 4B2: SBF2; 11p15
    CMT 4E: EGR2; 10q21
    CMT 4F: Periaxin; 19q13
    P0: 1q22
    Juvenile glaucoma
  Hereditary
    Distal motor neuropathies
    Sensory neuropathies
  Liability to pressure palsies
  Metabolic abnormalities
  Minifascicles & Gonadal dysgenesis
    HMSN
    HSN: DHH; 12q12
  Myelin disorders; Recessive
  Myelin proteins
  Vertical talus: HOXD10; 2q31; Dominant


OVERVIEW

Prevalence
  • Hereditary neuropathies: ~30 per 100,000
  • CMT Type 1: 15 per 100,000
  • CMT 1A: 10.5 per 100,000
  • CMT 2: ? 7 per 100,000
Tissue involvement Pathology: Differential diagnosis
  • Numerous large onion bulbs (Schwann cell proliferation): PMP22
  • Many clusters of small myelinated axons & Scattered onion bulbs: GJB1  
  • Outfoldings of myelin lamellae: HNPP, MTMR2, MTMR13, FGD4
  • Anomalies of cytoplasm of unmyelinated Schwann cells: SH3TC2
  • Anomalies of nodes of Ranvier: PRX
  • Loss of myelinated axons without regeneration: LMNA
  • Axonal mitochondrial pathology: MFN2
Other hereditary motor-sensory neuropathies

Charcot (left) & Babinski
at the Salpêtrière clinic.


Duchenne
CMT

R Baloh
HMSN types: Comparison of clinical features36
Disorder Gene Locus Usual onset Early or distinct
symptoms
Tendon
Reflexes
NCVs
CMT1: Dominant; Demyelinating
CMT 1A PMP-22 17p11 1st decade Distal weakness Absent 15 to 20 M/s
CMT 1B P0 1q22 1st decade Distal weakness Absent <20 M/s
CMT 1C LITAF 16p13 2nd decade Distal weakness Reduced 16 to 25 M/s
CMT 1D EGR2 10q21 2nd decade Distal weakness Absent 26 to 42 M/s
CMT X (S-D*) GJB1 Xq13 2nd decade Distal weakness Absent distal 25 to 40 M/s
HNPP PMP-22 17p11 3rd decade Focal episodic
weakness
Normal Entrapments
Dejerine-Sottas
  (HMSN 3)
PMP-22
8q23
EGR2
17p11
8q23
10q21
2 yrs Severe weakness Absent <10 m/s
CMT
  Intermediate
  NCV
DNM2
10q24
1p34
P0
CMT-X
19p12
10q24
1p34
1q22 
Xq13
1st or 2nd
decade
Distal weakness   25 to 50 M/s
CMT2: Dominant; Axonal
CMT 2A KIF1Bβ 1p36 10 yrs Distal weakness Absent distal > 38 M/s
MFN2 1p36
CMT 2B RAB7 3q13 2nd decade Distal weakness
Sensory loss
Acromutilation
Absent distal Axon loss
CMT 2C   12q23 1st decade Vocal cord &
Distal weakness
Absent > 50 M/s
CMT 2D GARS 7p15 16 to 30 yrs Distal weakness
  Arms > Legs
Reduced Axon loss
CMT 2E NF-68 8p21 1 to 40 yrs Distal weakness Reduced Axon loss
CMT 2F/ Distal HMN HSPB1 7q11 6 to 54 yrs Difficulty walking Reduced ankle Axon loss
CMT 2G   12q12 15 to 25 yrs Distal weakness Reduced 42 to 58 M/s
CMT 2L HSPB8 12q24 15 to 33 yrs Distal weakness Reduced Axon loss
HMSN-P   3q13 17 to 50 yrs Proximal weakness
Cramps
Absent Axon loss
HSMN + Ataxia IFRD1 7q22 13 to 27 yrs Gait ataxia Absent Axon loss
CMT 2 P0 P0 1q22 37 to 61 yrs Leg weakness
Pupil or Hearing Δ
Reduced < 38 M/s to
Normal
AR-CMT2: Recessive; Axonal
AR-CMT2A Lamin A/C 1q21 2nd decade Distal weakness Reduced Axon loss
AR-CMT2B   19q13 3rd & 4th
decade
Distal weakness Absent distal Axon loss
Andermann KCC3 15q13 1st decade Hypotonia Absent Mildly
reduced
Cowchock   Xq24 1st decade Distal weakness Absent Axon loss
CMT4: Recessive; Demyelinating
CMT 4A GDAP1 8q13 Childhood Distal weakness Reduced Slow
CMT 4B MTMR2 11q22 2 to 4 yrs Distal & Proximal
weakness
Absent Slow
CMT 4B2 SBF2 11p15 1st 2 decades Distal weakness
Sensory loss
Absent 15-30 m/s
CMT 4C SH3TC2 5q23 5 to 15 yrs Delayed walking Reduced 14 to 32 M/s
CMT 4D (Lom) NDRG1 8q24 1 to 10 yrs Gait disorder Absent 10 to 20 M/s
CMT 4E EGR2 10q21 Birth Infant hypotonia Absent 9 to 20 M/s
CMT 4F Periaxin 19q13 1 to 3 yrs Motor delay Absent Absent
CMT 4H FGD4 12q12 10 to 24 mo Walking delay Absent < 15 M/s
HMSN-Russe   10q22 8 to 16 yrs Distal leg
weakness
  Moderately
reduced
Dejerine-Sottas
  (HMSN 3)
P0
CMT 4F
1q22
19q13
2 yrs Severe weakness Absent <10 M/s
Congenital
  Hypomyelinating
  Neuropathy
P0
EGR2
PMP-22
1q22
10q21
17p11
Birth Severe weakness Absent <10 M/s
CCFDN CTDP1 18q23 1st or 2nd
decade
Distal leg
weakness
Reduced 20 to 34 M/s
* Semi-Dominant


External links

SPECIFIC HMSN SYNDROMES

CMT IA

  l PMP 22 ; Chromosome 17p11.2-p12; Dominant

CMT IA types
  PMP-22 duplication
  PMP-22 point mutation
  Other mutations
    Homozygote
    Recessive
PMP-22
  Clinical-Genetic correlations
  Gene mutations
  Protein

Also see: HNPP

CMT 1A
PMP-22 duplication
  l Duplication of PMP-22 gene   l Small mutations in PMP-22: Point & Other   l Homozygotes for PMP-22 gene duplication
        l PMP-22 duplication (4 copies); Chromosome 17p11.2-p12   l Autosomal Recessive CMT1A
        l PMP-22 point mutations: Thr118Met
        l PMP-22 deletion
        l Hemizygous mutation for PMP-22: Point mutation & Deletion

CMT IB + Other P0 mutation syndromes 61

  l P0 protein ; Chromosome 1q22

P0: Genetic features
P0 protein
P0 Clinical syndromes
  CMT 1B: Dominant; Demyelinating
  CMT 1E: Dominant; Demyelinating, Hearing loss
  CMT 2I: Dominant; Axonal
  CMT 2J: Dominant; Axonal; Pupil disorders; Hearing loss
  CMT-DI3: Dominant; Intermediate nerve conductions
  Congenital hypomyelinating neuropathy: Recessive; Demyelinating
  Dejerine-Sottas: Dominant or Recessive; Demyelinating
  Steroid responsive, Late-onset: Dominant; Demyelinating
  Adult onset (Axonal)
  Hypertrophic radiculopathy
  P0 variant syndromes
P0

P0


CMT 1C 20

  l Lipopolysaccharide-induced tumor necrosis factor-α factor (LITAF; SIMPLE) ; Chromosome 16p13.3-p12; Dominant

EGR2 mutations: CMT 1D & Other phenotypes

  l EGR2 (Krox20) ; Chromosome 10q21.1-q22.1; Dominant or Recessive

CMT: X-linked

Type 1
  Variants
Type 2
Type 3
Type 4 (Cowchock)
Type 5
Pyramidal signs


CMT 2A2

CMT 2

General features


CMT 2A: General

CMT 2A1
  l Kinesin family member 1Bβ (KIF1B) ; Chromosome 1p36.2; Dominant

From: B Baloh MD

CMT 2A2
  l Mitofusin 2 (MFN2; KIAA0214) ; Chromosome 1p36.2; Dominant or Semi-Dominant


CMT 2B
  l RAB7 ; Chromosome 3q13-q22; Dominant


  • CMT 2C (HMSN 2C) 27
      l Chromosome 12q23-q24: Dominant


    CMT 2D
      l Glycyl tRNA Synthetase ; Chromosome 7p15; Dominant


    CMT 1F39
      l Neurofilament light chain (NEFL) ; Chromosome 8p21; Dominant or Sporadic CMT 2E4
      l Neurofilament light chain (NEFL) ; Chromosome 8p21; Dominant
    AR-CMT (CMT 2B5): Severe, Early onset 78
      l Neurofilament light chain (NEFL) ; Chromosome 8p21; Recessive

    CMT 2F/ Distal HMN19
      l HSPB1 (HSP 27) ; Chromosome 7q11.23; Dominant or Recessive


    CMT 2G46
      l Chromosome 12q12–q13.3; Dominant

    CMT 2L47
      l HSPB8 ; Chromosome 12q24-qter; Dominant

    HMSN-P

    CMT 2-P0



    Hereditary Sensory-Motor Neuropathy with Ataxia (SMNA) 26
      l Interferon-related developmental regulator gene 1 (IFRD1) ; Chromosome 7q22-q23; Dominant


    CMT with intermediate NCV (DI-CMT)17

    DI-CMT, Type A
      l Chromosome 10q24.1-q25.1; Dominant
    DI-CMT, Type B
      l Dynamin 2 (DNM2) ; Chromosome 19p12-p13.2; Dominant DI-CMT, Type C43
      l Tyrosyl-tRNA synthetase (YARS) ; Chromosome 1p34-p35; Dominant
    Other CMT disorders with intermediate NCV

    Recessive, Axonal CMT

    AR-CMT2A: 1q21
    AR-CMT2B: MED25; 19q13.3
    AR-CMT2-Acrodystrophy
    AR-CMT2-Ouvrier: Early childhood onset
    Andermann (Corpus callosum Δ): 15q13
    CMT X-linked
    HMSN + CNS: Heterogeneous
    Giant axonal neuropathy: Gigaxonin; 16q24
    HMSN + Deafness
    HMSN + Optic neuropathy ± Deafness
    Lethal Neonatal
    Neuroaxonal dystrophy




    Axonal CMT (AR-CMT2A; CMT2B1)1
      l Lamin A/C ; Chromosome 1q21.2; Recessive


    Axonal CMT (AR-CMT2B; CMT2B2)12
      l MED25 (ARC92; ACID1) ; Chromosome 19q13.3; Recessive


    Axonal CMT (AR-CMT) with hoarseness (CMT 2K)23
      l Ganglioside-induced differentiation-associated protein 1 (GDAP1) ; Chromosome 8q21.1; Recessive


    Axonal CMT (AR-CMT): Ouvrier type
      l Autosomal Recessive or Semi-Dominant


    Axonal CMT with pyramidal involvement (AR-CMT2C; CMT4C2)14
      l Chromosome 8q21.3; Recessive


    Axonal CMT with acrodystrophy
      l Recessive8


    HMSN III (Dejerine-Sottas)32



    Hereditary Liability to Pressure Palsies (HNPP)

      l PMP-22 deletion; Chromosome 17p11.2-p12; Dominant

    HNPP: Genetics HNPP: Clinical features44 HNPP: Laboratory features

    CMT 4

    General features

    CMT 4A
      l Ganglioside-induced differentiation-associated protein 1 (GDAP1) ; Chromosome 8q21.1; Recessive

    HMSN with focally folded myelin sheaths (CMT 4B)

      CMT 4B
        l Myotubularin-related protein-2 (MTMR2) ; Chromosome 11q22.1; Recessive


      CMT 4B2 2
        l SET binding factor 2 (SBF2) (MTMR13) ; Chromosome 11p15; Recessive   HMSN with focally folded myelin sheaths: with juvenile-onset Glaucoma6
        l SET binding factor 2 (SBF2) (MTMR13) ; Chromosome 11p15; Recessive

      HMSN with focally folded myelin sheaths: Dominant
        l P0 protein; Chromosome 1q22-1q23; Dominant
        l ? Additional locus

      HMSN with focally folded myelin sheaths: Additional locus
        l Recessive



    CMT 4C
      l SH3TC2 (KIAA1985) ; Chromosome 5q32; Recessive

    CMT 4D: HMSN (Demyelinating) & Hearing loss (Lom type)
      l N-myc Downstream-Regulated Gene 1 (NDRG1) ; Chromosome 8q24.3; Recessive


    CMT 4F3
      l Periaxin (PRX) ; Chromosome 19q13.13-q13.2; Recessive


    HMSN-Russe (HMSNR; CMT 4G) 5
      l Hexokinase 1 (HK1) ; Chromosome 10q22; Recessive

    CMT 4H52
      l frabin/FGD4 ; Chromosome 12p11.21-q13.11; Recessive

    CMT 4J 69
      l FIG4 ; Chromosome 6q21; Recessive

    HMSN with CNS or Cranial nerve involvement

    Dominant, Axonal
    Dominant, Demyelinating
    Recessive, Axonal
    Recessive, Demyelinating
    X-linked, Demyelinating


    HMSN with CNS or Cranial nerve: Dominant, Demyelinating


    HMSN with CNS or Cranial nerve: Dominant, Axonal


    HMSN with CNS or Cranial nerve: Recessive, Axonal neuropathy


    HMSN with CNS or Cranial nerve: Recessive, Demyelinating

    Refsum Syndromes



    HMSN with CNS or Cranial nerve: X-linked, Demyelinating

    HMSN with pyramidal signs & cerebral white matter lesions40
      l Semi-Dominant

    Hereditary Neuropathies - Other

    α-Methylacyl-CoA racemase (AMACR) deficiency
      l AMACR ; Chromosome 5p13.2-q11.1; Recessive
    HMSN with Minifascicle Formation & 46XY Pure Gonadal Dysgenesis25
      l Sporadic vs Recessive
    HMSN with Congenital vertical talus49
      l HOXD10 ; Chromosome 2q31; Dominant
    Also see: Childhood onset neuropathies



  • Patient information
    Support groups


    Return to Polyneuropathy Index
    Return to Neuromuscular home page


    References
    1. Am J Hum Genet 1999;65:722-727, Neuromuscular Disorders 2003;13:60–67, Brain 2007 Mar 8

    2. Genomics 1999;62:344-349, Human Molecular Genetics 2003;12:349–356
    3. Am J Hum Genet 2001;68:325-333
    4. Am J Hum Genet 2000;67, Brain 2007;130:394–403
    5. Am J Hum Genet 2000;67:664-671, Ann Neurol 2001; Online Aug 7, European Journal of Human Genetics 2009; Online June
    6. Neurology 2000;55:392-397, Am J Hum Genet 2003;72 Online April3
    7. Neuromuscular Disorders 2000;10:497-502
    8. J Neurol 1999;246:107-112
    9. JNNP 2000;69:806-811, Brain 2003;126:134-151
    10. JNNP 2000;69:799-805
    11. Neurology 2000;55:1552-1557
    12. Am J Hum Genet 2001;68:269-274, Neuromuscular Disorders 2004;14:301–306
    13. Neurology 2001;56:100-103
    14. Neuromuscular Disorders 2001;11:27-34
    15. Lancet 2001;357:267-272
    16. Hum Mol Genet 2001;10:947-952
    17. Neurology 2001;56:A315, Neuromuscular Disorders 1998;8:392–393, Am. J. Hum. Genet. 2001;69:000–000
    18. Neuromuscular Disorders 2001;11:400-403
    19. Eur J Hum Genet 2001;9:646-650, Neurology 2008; Online October
    20. Am J Hum Genet 2002;70:244-250, Neurology 2003;60:22-26
    21. Neurology 2001;57:1906-1908
    22. Nature Genet 2002;30:21-22, Neurology 2002;59:1865–1872
    23. Nature Genet 2002;30:22-24, Arch Neurol 2003;60:598-604, Brain 2003;126: August, Brain 2007 Mar 8
    24. JNNP 2002;72:396-399
    25. Ann Neurol 2002;51:385–388
    26. Am J Hum Genet 2002; On-Line April
    27. Neuromuscular Disorders 2002;12:399–404, J Neurol Neurosurg Psychiatry 2002;73:762–765, Neurology 2003;60:1151–1156
    28. Neurology 2002;58:1769–1773
    29. Neuromuscular Disorders 2002;12:386-391
    30. Ann Neurol 2002;52:429–434, Pediatr Neurol 2008;38:293-295
    31. J Neurol 2002;249:1298-1302
    32. Muscle Nerve 2002;26:608–621
    33. J Cell Sci 2002;115:4937-4946
    34. Muscle Nerve 2003; Online December 2002
    35. Am J Hum Genet 2003; On-Line January
    36. J Neurol 2002;249:1629-1650
    37. Neurology 2003;60:506–508
    38. Pediatr Neurol 2003;28:115-118
    39. Brain 2003;126:590-597
    40. Muscle Nerve 2003;28: 623–625
    41. Am J Hum Genet 2003;73:1106–1119, PNAS 2009; Online September 29
    42. Neurology 2003;61:1154-1155
    43. Am J Hum Genet 2003; Online November
    44. Muscle Nerve 2004;29:205-210, Acta Neurol Scand 2003;108:352-358, Neuromuscul Disord. 2003;13:827-829
    45. Neurology 2003;61:1457-1458
    46. J Med Genet 2004;41:193–197
    47. Human Genet 2004;114:527–533, Human Genet 2004; Online November
    48. J Peripher Nerv Syst. 2004;9:124
    49. Am J Hum Genet 2004; Online May
    50. J Neuropath Exp Neurol 2004;63:1167-1172
    51. J Neurol 2004 Dec;251(12):1491-1497
    52. Hum Mol Genet 2005; Online March, Am J Hum Genet 2007; Online March, Neurology 2009;72:617–620
    53. Ann Neurol 2005;57:749–754
    54. Neurology 2005;64:1964–1967
    55. J Cell Sci 2005 Jun 28, Hum Mol Genet 2005;14:1405-1415
    56. JNNP 2005;76:1109-1114
    57. Neurology. 2005;65:197-204, Neurology. 2005;65:496-497
    58. Neuromuscul Disord 2005 On line Sep 27, Neurogenetics 2007 Aug 24
    59. Nature Genetics 2005; Online Jan 22
    60. Ann Neurol 2005;59:276–281
    61. J Neurol Sci 2005; Online
    62. JNNP 2006;77:963-966, J Comp Neurol 2006;498:252-265, Neuromuscul Disord 2006;16:308-310
    63. Neurology 2006;67;2016-2021, Neurogenetics 2008;9:191-195
    64. Neurology 2006;67;2250-2252
    65. Ann Neurol 2006;59:358–364
    66. Otol Neurotol 2005;26:405-414
    67. Neurology 2007;68:849–855
    68. Neuromuscul Disord. 2007 Apr 10
    69. Nature 2007; Online June 17, Brain 2008;131:1990-2001
    70. Neuromuscul Disord 2008;18:334-338, Neurology 2007;69:291-295
    71. Neurology 2009;72:1–1
    72. Neurology 2008;70:2010-2011
    73. Neurology 2008;71:1959–1966
    74. Neurology 2008;71:1678–1681
    75. J Neuropathol Exp Neurol 2008;67:1097-1102
    76. Neurogenetics 2009 Mar 17
    77. Am J Human Genet 2009; Online April 30
    78. Journal of Human Genetics 2009;54:94–97, Ann Neurol 2009; Online May
    79. Neuromuscular Disorders 2009; Online November

    Illustration by J. Kwon, MD

    11/16/2009