Two children with "dropped head" syndrome due to lamin A/C mutations

Muscle and Nerve

Volumn 42, Issue 5, 2010, Pages 839-841

  Chemla, Jeremy C ^a   Kanter, Ronald J ^a   Carboni, Michael P ^a   Smith, Edward C ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

"Dropped head" syndrome; Congenital muscular dystrophy; L CMD; Laminopathy; LMNA

Indexed keywords

LAMIN A; LAMIN C;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ARRHYTHMIA; HUMAN; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MYOPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; CHILD, PRESCHOOL; FEMALE; HEAD; HUMANS; LAMIN TYPE A; LAMININ; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; NEUROMUSCULAR DISEASES;

EID: 78149311463     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21820     Document Type: Article

References (5)

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