New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations

Neurology

Volumn 71, Issue 23, 2008, Pages 1896-1901

  Ohlsson, M ^a   Quijano Roy, S ^c   Darin, N ^b   Brochier, G ^d   Lacene E ^d   Avila Smirnow, D ^c   Fardeau, M ^d   Oldfors, A ^a,b   Tajsharghi, H ^a  

^a Department of Pathology ^*  (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA TROPOMYOSIN; TROPOMYOSIN; UNCLASSIFIED DRUG; 4 ANISYLTETRAZOLIUM BLUE; 4-ANISYLTETRAZOLIUM BLUE; DIAGNOSTIC AGENT; NICOTINAMIDE ADENINE DINUCLEOTIDE; TETRAZOLIUM; TPM2 PROTEIN, HUMAN;

ADULT; ARTICLE; BETA TROPOMYOSIN GENE; CASE REPORT; CHILD; ELECTRON MICROSCOPY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE FIBRIL; MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHOTOGRAPHY; SKELETAL MUSCLE; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NAD; PHOTOGRAPHY; TETRAZOLIUM SALTS; TROPOMYOSIN;

EID: 63849099977     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000336654.44814.b8     Document Type: Article

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