myotilin mutation found in second pedigree with LGMD1A

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1428-1432

  Hauser, Michael A ^a,f   Conde, Cecilia B ^b   Kowaljow, Valeria ^b   Zeppa, Guillermo ^c   Taratuto, Ana L ^e   Torian, Udana M ^a   Vance, Jeffery ^a   Pericak Vance, Margaret A ^a   Speer, Marcy C ^a   Rosa, Alberto L ^b,d  

^a DUKE UNIVERSITY   (United States)

^b I I M M/M F ^*  (Argentina)

^c HOSPITAL PRIVADO   (Argentina)

^d Hospital de Ninos de Cordoba   (Argentina)

^e HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ; CALPAIN 3; CAVEOLIN 3; DYSTROPHIN; FILAMIN; MYOTILLIN; PROTEIN; SARCOGLYCAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARGENTINA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; DNA STRAND; GENE MUTATION; GENETIC DISORDER; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MICROSATELLITE MARKER; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEUROMUSCULAR DISEASE; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; STRUCTURE ACTIVITY RELATION;

EID: 0036916438     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344532     Document Type: Article

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