Mutations in the β-tropomyosin (TPM2) gene - A rare cause of nemaline myopathy

Neuromuscular Disorders

Volumn 12, Issue 2, 2002, Pages 151-158

  Donner, Kati ^a,b   Ollikainen, Miina ^a,b   Ridanpää, Maaret ^a,b   Pelin, K ^a   Wallgren Pettersson, Carina ^a,b   Pelin, Katarina ^b   Christen, Hans Jürgen ^c   Goebel, Hans H ^d   De Visser, Marianne ^e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c Children's Hospital Auf der Bult   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Mutation; Nemaline (rod) myopathy; TPM2; Tropomyosin

Indexed keywords

ALPHA ACTIN; ALPHA TROPOMYOSIN 3; AMINO ACID; BETA TROPOMYOSIN 2; DIMER; NEBULIN; TROPOMYOSIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; SLOW MUSCLE;

AMINO ACID SEQUENCE; ANIMALS; BIOPSY; DNA PRIMERS; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; TROPOMYOSIN;

EID: 0036133714     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00252-8     Document Type: Article

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