Molecular analysis of LGMD-2B and MM patients: Identification of novel DYSF mutations and possible founder effect in the Italian population

Neuromuscular Disorders

Volumn 13, Issue 10, 2003, Pages 788-795

  Cagliani, R ^a   Fortunato, F ^b   Giorda, R ^a   Rodolico, C ^c   Bonaglia, M C ^a   Sironi, M ^a   D'Angelo, M G ^a   Prelle, A ^b   Locatelli, F ^a   Toscano, A ^c   Bresolin, N ^a,b   Comi, G P ^b  

^a SCIENTIFIC INSTITUTE   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

Author keywords

Dysferlin; Founder effect; Limb girdle muscular dystrophy type 2B; Miyoshi myopathy

Indexed keywords

ARGININE; DYSFERLIN; TRYPTOPHAN;

ADULT; AGED; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; ITALY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 10744220036     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00133-0     Document Type: Article

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