Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I

Neuromuscular Disorders

Volumn 16, Issue 12, 2006, Pages 870-873

  Vieira, N M ^a   Schlesinger, D ^a   de Paula, F ^a   Vainzof, M ^a   Zatz, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

FKRP; LGMD; MDC1C

Indexed keywords

FUKUTIN RELATED PROTEIN; PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; OPEN READING FRAME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CODON, NONSENSE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INHERITANCE PATTERNS; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS;

EID: 33845210089     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.08.007     Document Type: Article

References (10)

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