Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2: Original Article

Neuropathology

Volumn 29, Issue 5, 2009, Pages 543-547

  Chen, Bin ^a   Zheng, Riliang ^a   Luan, Xinghua ^a   Zhang, Wei ^a   Wang, Zhaoxia ^a   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

BSCL2; DHMN II; DHMN V; Hereditary motor neuropathy; Sensory nerve

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; PROTEIN BSCL2; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; MOTOR NEUROPATHY; MUSCLE ACTION POTENTIAL; MYELINATED NERVE; NERVE BIOPSY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; CHINA; FAMILY; FEMALE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HAND; HUMANS; MOTOR NEURON DISEASE; NERVE DEGENERATION; NERVE FIBERS, MYELINATED; NEURODEGENERATIVE DISEASES; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSORY RECEPTOR CELLS; SURAL NERVE;

EID: 70349329607     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2009.01011.x     Document Type: Article

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