๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria

โœ Scribed by Dr. Rahman Pourmand; Dr. Biagio Azzarelli


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
331 KB
Volume
17
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

โœฆ Synopsis


Most congenital myopathies are characterized by the presence of a specific structural alteration in the muscle fibers. Classic examples are central core disease and nemaline myopathy. However, in rare cases, two or more structural changes coexist in the same muscle biopsy, or in two different muscles which are in the same patient.'.'."7.'0-'s Mixed myopathy (MM) is the term used for these associa t i o n ~. ~ Most MM occur in children and rarely in the adult age group.16 The aim of this report is to describe the clinical presentation and histopathological changes in a patient with adult-onset of nemaline rnyopathy in which cores and mitochondrial inclusions coexisted.

CASE HISTORY

A 53-year-old man had progressive muscle weakness for the past 5 years. His weakness began following a motor vehicle accident in 1973. He was diagnosed then as having Charcot-Marie-Tooth disease. He had normal developmental milestones and had no physical disability or restriction in participating in sports in his earlier life. He was noted to have high-arched feet with hammer-toe deformity as long as he could remember. Family history was negative for any neuromuscular diseases. On examination he had high-arched feet and palate with hammer-toe deformity. He had moderate From the Departments of Neurology (Dr.


๐Ÿ“œ SIMILAR VOLUMES


Adult-onset nemaline myopathy: Another c
โœ Catherine Lomen-Hoerth; Martha L. Simmons; Stephen J. Dearmond; Robert B. Layzer ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 350 KB

A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. Review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic

Identification of 45 novel mutations in
โœ Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Salla Ranta; Kati Donner ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 375 KB ๐Ÿ‘ 1 views

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu

Generalised dystonia with an abnormal ma
โœ Jaume Campdelacreu; Esteban Muรฑoz; Beatriz Gรณmez; Teresa Pujol; Amparo Chabรกs; E ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 394 KB

## Abstract We describe a 46โ€yearโ€old woman with adultโ€onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigat

Increased apoptosis of peripheral blood
โœ Chen, Der-Yuan ;Hsieh, Tsu-Yi ;Hsieh, Chia-Wei ;Lin, Fang-Ju ;Lan, Joung-Liang ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 253 KB ๐Ÿ‘ 2 views

## Abstract ## Objective To determine spontaneous and activationโ€induced apoptosis of peripheral blood lymphocytes (PBLs) from patients with active untreated adultโ€onset Still's disease (AOSD) and to examine the role of interleukinโ€18 (ILโ€18) involved in the apoptosis related to this disease. ##