Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation☆
References (35)
- et al.
Herediatary distal myopathy with onset in early infancy — Observation of a family
J. neurol. Sci.
(1978) Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander)
J. neurol. Sci.
(1975)- et al.
A new type of hereditary diatal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
J. neurol. Sci.
(1980) - et al.
Chronic spinal muscular atrophy in adults, Part 2 (Other forms)
J. neurol. Sci.
(1969) - et al.
An electron-microscopic study of the T-system in progressive muscular dystrophy (Duchenne) using lanthanum
J. neurol. Sci.
(1980) - et al.
The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle — An immunohistochemical and electron-microscopic study
J. neurol. Sci.
(1980) - et al.
Diseased human muscle in tissue culture — A new approach to the pathogenesis of human neuromuscular disorders
- et al.
Late distal myopathy — Report of a case
Neurology (Minneap.)
(1962) - et al.
Proteinases in cardiac and skeletal muscle
- et al.
Intracellular calcium accumulation in Duchenne dystrophy and other myopathies — A study of 567,000 muscle fibers in 114 biopsies
Neurology (Minneap.)
(1978)
Duchenne dystrophy — Focal alterations in the distribution of concanavalin A binding sites at the muscle cell surfaces
Ann. Neurol.
(1978)
Studies of sarcolemmal integrity in myopathic muscle
Neurology (Minneap.)
(1978)
Duchenne muscular dystrophy — Plasma membrane loss initiates muscle cell necrosis unless it is repaired
Brain
(1979)
Inclusion body myositis — A distinct variety of idiopathic inflammatory myopathy
Neurology (Minneap.)
(1978)
Ultrastructure of “opaque fibers” (OFs) in Duchenne muscular dystrophy (DMD)
Neurology (Minneap.)
(1979)
Muscle Biopsy — A Modern Approach
(1973)
Rimmed vacuoles
Acta neuropath. (Berl.)
(1980)
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This study was supported by Grant No. 80-02 from the National Center for Nervous, Mental and Muscular Disorders (NCNMMD) of the Ministry of Health and Welfare, Japan.
Copyright © 1981 Published by Elsevier B.V.