Novel MPZ mutations and congenital hypomyelinating neuropathy

Neuromuscular Disorders

Volumn 20, Issue 11, 2010, Pages 725-729

  Mcmillan, Hugh J ^a   Santagata, Sandro ^a   Shapiro, Frederic ^a   Batish, Sat Dev ^b   Couchon, Libby ^b   Donnelly, Stephen ^c   Kang, Peter B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ATHENA DIAGNOSTICS INC   (United States)

^c Maine Medical Partners   (United States)

Author keywords

Charcot Marie Tooth, type 1B; Genetic variation; Hereditary motor and sensory neuropathies; Myelin protein zero; Sequence homology

Indexed keywords

AMINO ACID; ASPARAGINE; MYELIN PROTEIN ZERO; SERINE; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HYPOMYELINATING NEUROPATHY; DISEASE ASSOCIATION; ELECTRODIAGNOSIS; GENE DELETION; GENE MUTATION; HUMAN; INFANT; LABORATORY TEST; MALE; NERVE BIOPSY; NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TRANSPORT; SURAL NERVE;

CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; ELECTRODIAGNOSIS; HUMANS; INFANT; MALE; MUTATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; SURAL NERVE;

EID: 77957752031     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.06.004     Document Type: Article

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