SCREENING FOR MILD Xp21 MYOPATHIES: ANALYSIS OF ATYPICAL PHENOTYPES, STUDY OF THEIR EVOLUTION
- 2 Anni 1995/1997
- 72.304€ Totale Fondi
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Pubblicazioni Scientifiche
- 1994 AMERICAN JOURNAL OF MEDICAL GENETICS
OCCURRENCE OF 2 DIFFERENT INTRAGENIC DELETIONS IN 2 MALE RELATIVES AFFECTED WITH DUCHENNE MUSCULAR-DYSTROPHY
- 1996 HUMAN MOLECULAR GENETICS
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
- 1997 NEW ENGLAND JOURNAL OF MEDICINE
Mutations in the sarcoglycan genes in patients with myopathy
- 1995 NATURE GENETICS
BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX
- 1998 NATURE GENETICS
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
