GNE gene mutation analysis in a family of distal myopathy with rimmed vacuoles

Chinese Journal of Neurology

Volumn 38, Issue 12, 2005, Pages 759-763

  Wang, Qin Zhou ^a   Yan, Chuan Zhu ^a   Liu, Shu Ping ^a   Wu, Jin Ling ^a   Jin, Bo ^a   Li, Da Nian ^a  

^a SHANDONG UNIVERSITY   (China)

Author keywords

Biopsy; Multienzyme complexes; Mutation; Myositis, inclusion body

Indexed keywords

ARTICLE; CELL VACUOLE; CHINESE; CLINICAL FEATURE; DISTAL MYOPATHY; ELECTRON MICROSCOPY; EXON; FAMILY HISTORY; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INCLUSION BODY MYOSITIS; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; QUADRICEPS FEMORIS MUSCLE; SKELETAL MUSCLE;

EID: 33644926430     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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