Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene

Neuromuscular Disorders

Volumn 15, Issue 12, 2005, Pages 847-850

  D'Amico, A ^a   Benedetti, S ^b   Petrini, S ^a   Sambuughin, N ^d   Boldrini, R ^a   Menditto, I ^b   Ferrari, M ^b,c   Verardo, M ^a   Goldfarb, L ^d   Bertini, E ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b Diagnostica e Ricerca San Raffaele   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Desmin; Lamin A C; Myofibrillar myopathy

Indexed keywords

LAMIN A; LAMIN C;

ARTICLE; CASE REPORT; CELL INCLUSION; EXON; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE FIBRIL; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETAL MUSCLE;

CHILD; DESMIN; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; EXONS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LAMIN TYPE A; MUSCULAR DISEASES; MUTATION, MISSENSE; MYOFIBRILS;

EID: 28244434867     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.09.007     Document Type: Article

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