A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1

Internal Medicine

Volumn 53, Issue 15, 2014, Pages 1655-1658

  Maeda, Kengo ^a   Idehara, Ryo ^a   Hashiguchi, Akihiro ^b   Takashima, Hiroshi ^b  

^a Higashi ohmi General Medical Center   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Charcot Marie Tooth disease; Distal hereditary motor neuropathy; Heat shock protein

Indexed keywords

DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II; DNA; HEAT SHOCK PROTEIN 27; HSPB1 PROTEIN, HUMAN; TUMOR MARKER;

AGED; CASE REPORT; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SPINAL MUSCULAR ATROPHY;

AGED; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HSP27 HEAT-SHOCK PROTEINS; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; TUMOR MARKERS, BIOLOGICAL;

EID: 84905223163     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.53.2843     Document Type: Article

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