2009
DOI: 10.1590/s0004-282x2009000500020 View full text |Buy / Rent full text
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Abstract: -Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of… Show more

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“…Nemalin miyopatisi; yaygın hipotoni ve kas güçsüzlüğü ile karakterize bir konjenital miyopatidir. Küçük olgu serilerine dayanılarak yenidoğan dönemindeki sıklığı 1/500000 canlı doğum olarak bildirilmektedir (7).…”
Section: Discussionunclassified
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rupbmjkragerfmgwileyiopcupepmcmbcthiemesagefrontiersapsiucrarxivemeralduhksmucshluniversity-of-gavle
“…Nemalin miyopatisi; yaygın hipotoni ve kas güçsüzlüğü ile karakterize bir konjenital miyopatidir. Küçük olgu serilerine dayanılarak yenidoğan dönemindeki sıklığı 1/500000 canlı doğum olarak bildirilmektedir (7).…”
Section: Discussionunclassified
“…Existe um pequeno número de casos e trabalhos sobre a doença, devido sua baixa incidência de 1/500.000 nascidos vivos 3 .…”
Section: Discussionunclassified
“…Suas características clínicas incluem hipotonia, atrofia e fraqueza muscular estacionária ou com mínima progressão, também associadas com deformidades musculoesqueléticas,principal mente em tronco e membros inferiores, além de outras complicações como disfagia e insuficiência respiratória 3 .…”
Section: Introductionunclassified
“…EMG is nonspecific, showing similar abnormalities in all congenital myopathies. Especially before the age of 3 years, EMG usually shows mild abnormalities and a myopathic pattern can be found in only a few patients [12]. Muscle imaging is useful in distinguishing between neuropathic and myopathic processes, and can be used to identify an appropriate muscle to biopsy.…”
Section: DI Is Sc Cu Us Ss Si Io On Nmentioning