Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

Neuromuscular Disorders

Volumn 25, Issue 4, 2015, Pages 359-360

  Pinto, Wladimir Bocca Vieira de Rezende ^a   Oliveira, Acary Souza Bulle ^a   Souza, Paulo Victor Sgobbi de ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN; FLAVOPROTEIN; PHOSPHATASE;

CASE REPORT; CHARCOT MARIE TOOTH DISEASE TYPE 4; CLINICAL EVALUATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DMD GENE; DYSTROPHINOPATHY; EXON; FAMILY HISTORY; FEMALE; FIG4 GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSCLE BIOPSY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE GENE; GENETICS;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; FLAVOPROTEINS; HUMANS; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84925265632     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.12.007     Document Type: Letter

References (8)

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