A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L

Neuromuscular Disorders

Volumn 23, Issue 8, 2013, Pages 656-663

  Nakhro, Khriezhanuo ^a   Park, Jin Mo ^b   Kim, Ye Jin ^a   Yoon, Bo Ram ^a   Yoo, Jeong Hyun ^b   Koo, Heasoo ^b   Choi, Byung Ok ^b   Chung, Ki Wha ^a  

^a Kongju National University   (South Korea)

^b Ewha Womans University School of Medicine   (South Korea)

Author keywords

Charcot Marie Tooth disease; CMT2L; Exome; HSP22; HSPB8; Korean

Indexed keywords

HEAT SHOCK PROTEIN 22; LYSINE; THREONINE;

ADOLESCENT; ADULT; AREFLEXIA; ARTICLE; CASE REPORT; CELL LOSS; CHARCOT MARIE TOOTH DISEASE TYPE 2L; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXOME; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HEAT SHOCK PROTEIN 22 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; MUTATOR GENE; MYOGRAPHY; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SENSORY DYSFUNCTION;

CHARCOT-MARIE-TOOTH DISEASE; CMT2L; EXOME; HSP22; HSPB8; KOREAN;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; HEAT-SHOCK PROTEINS; HUMANS; LYSINE; MAGNETIC RESONANCE IMAGING; MALE; MEDIAN NERVE; MUSCLE, SKELETAL; MUTATION; NEURAL CONDUCTION; REPUBLIC OF KOREA; SURAL NERVE; THREONINE;

EID: 84880940762     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.05.009     Document Type: Article

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