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Titolo:
ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2
Autore:
BUSHBY K; ANDERSON LVB; POLLITT C; NAOM I; MUNTONI F; BINDOFF L;
Indirizzi:
UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,19-20 CLAREMONT PL NEWCASTLE TYNE NE2 4AA TYNE & WEAR ENGLAND NEWCASTLE GEN HOSP,MUSCULAR DYSTROPHY RES LABS NEWCASTLE TYNE NE4 6BETYNE & WEAR ENGLAND HAMMERSMITH HOSP LONDON ENGLAND
Titolo Testata:
Brain
, volume: 121, anno: 1998,
parte:, 4
pagine: 581 - 588
SICI:
0006-8950(1998)121:<581:AMIA-A>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
SKELETAL-MUSCLE; LAMININ ALPHA-2-CHAIN; SARCOGLYCAN COMPLEX; BETA-SARCOGLYCAN; MUTATIONS; EXPRESSION; DEFICIENCY; PROTEIN; LOCUS;
Keywords:
LIMB-GIRDLE MUSCULAR DYSTROPHY; MEROSIN; MUSCLE PROTEINS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
K. Bushby et al., "ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2", Brain, 121, 1998, pp. 581-588

Abstract

We have identified seven patients (including two sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of merosin was noted on immunoblotting. Merosin immunocytochemistrywets normal, and no abnormalities were detected on immunostaining forthe various proteins known to be involved in the limb-girdle musculardystrophies (alpha, beta, gamma, delta sarcoglycan and calpain 3). Apart from one patient, where muscle problems began in childhood, reported age at onset of muscle weakness involving initially the proximal muscles of the lower limbs ranged from 17 to 40 years. The pattern of muscle involvement was similar from patient to patient, with hypertrophyof at least the calf muscles, absence of scapular winging and predominant involvement of hip flexors and adductors and hamstrings more thanquadriceps. Serum creatine kinase in all patients was at least 10 times normal, and muscle biopsies showed non-specific dystrophic features. We believe that the patients described here may represent a genetically distinct subset within the limb-girdle muscular dystrophy group.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 10:12:00