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Titolo:
NEMALINE MYOPATHY - 2 AUTOPSY REPORTS
Autore:
BERGMANN M; KAMARAMPAKA M; KUCHELMEISTER K; KLEIN H; KOCH H;
Indirizzi:
ZENTRALKRANKENHAUS BREMEN OST,INST KLIN NEUROPATHOL,ZURICHER STR 40 D-28325 BREMEN GERMANY STADT KRANKENANSTALTEN,NEUROPATHOL ABT D-47805 KREFELD GERMANY UNIV MUNSTER,INST NEUROPATHOL D-48149 MUNSTER GERMANY ST MARIEN HOSP D-49377 VECHTA GERMANY
Titolo Testata:
Child's nervous system
fascicolo: 10, volume: 11, anno: 1995,
pagine: 610 - 615
SICI:
0256-7040(1995)11:10<610:NM-2AR>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
SKELETAL-MUSCLE; FETAL MUSCLE; CARDIOMYOPATHY; FAMILIES; GENETICS;
Keywords:
NEMALINE MYOPATHY; CARDIAC INVOLVEMENT; NERVOUS SYSTEM INVOLVEMENT; UBIQUITIN;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
37
Recensione:
Indirizzi per estratti:
Citazione:
M. Bergmann et al., "NEMALINE MYOPATHY - 2 AUTOPSY REPORTS", Child's nervous system, 11(10), 1995, pp. 610-615

Abstract

Nemaline myopathy belongs to the group of congenital nonprogressive myopathies; however, in rare cases death occurs in early infancy. We report two cases of rapidly fatal nemaline myopathy. The first patient, who died at the age of 26 months, showed atrophy of type 1 fibers containing numerous rods in biopsy sections. Biopsy of the second patient,who had died at the age of 5 months, revealed severe maturational arrest and myopathy, but rods were so rare that diagnosis could only be made at the ultrastructural level. Autopsy of both patients showed thatatrophy of type 1 fibers and maturational arrest had disappeared in the very same muscles; rods had moved to a central position in the first and significantly increased in number in the second case. Diaphragmamuscles contained abundant amounts of rods in both cases. The cardiacmusculature showed a few rods only in the first patient, who had developed heart insufficiency 11 months prior to death. Immunohistochemical analysis showed that rods did not contain desmin or ubiquitin.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 11:33:56