Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

Human Mutation

Volumn 31, Issue 2, 2010, Pages 176-183

  Lawlor, Michael W ^a   DeChene, Elizabeth T ^a   Roumm, Emily ^a   Geggel, Amelia S ^a   Moghadaszadeh, Behzad ^a   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Atrophy; CFTD; Congenital myopathy; Fiber type disproportion; Hypotrophy; Pathology; Skeletal muscle; TPM3; Tropomyosin; Type 1 fiber

Indexed keywords

ALPHA TROPOMYOSIN; TROPOMYOSIN; TROPOMYOSIN 3; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONGENITAL FIBER TYPE DISPROPORTION; CONTROLLED STUDY; GENE MUTATION; GENETIC SCREENING; HUMAN; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TYPE 1 MYOFIBER HYPOTROPHY;

ADULT; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; MYOPATHIES, STRUCTURAL, CONGENITAL; TROPOMYOSIN;

EID: 75149179143     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21157     Document Type: Article

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