Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report

Clinical Neurology

Volumn 47, Issue 1, 2007, Pages 50-52

  Nishibayashi, Momoka ^a   Kokubun, Norito ^a   Nakamura, Arata ^a   Hirata, Koichi ^a   Yamamoto, Masahiko ^b,c   Sobue, Gen ^b  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c AICHI GAKUIN UNIVERSITY   (Japan)

Author keywords

Autosomal dominant inheritance; CMT2; Distal hereditary motor neuropathy type II; Heat shock protein 27

Indexed keywords

HEAT SHOCK PROTEIN 27;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2; ELECTROMYOGRAPHY; FAMILY HISTORY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; PHYSICAL EXAMINATION; WALKING;

HEAT-SHOCK PROTEINS; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 34248652723     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Harding AE: Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In Peripheral neuropathy, 4th ed, ed by Dyck PJ, Thomas PK, WB Saunders, Philadelphia, 2005, pp 1603-1621
2. Evgrafov OV, Mersiyanova I, Irobi J, et al: Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-606
3. Harding AE, Thomas PK: Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 1980;45:337-348
4. Kijima K, Numakura C, Goto T, et al: Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet 2005; 50: 473-476