scholarly journals Idiopathic Pancreatitis as a Rare Gastrointestinal Manifestation of Myotonic Muscular Dystrophy

Cureus ◽  
2018 ◽  
Author(s):  
Nina Kello
Keyword(s):  
Muscular Dystrophy ◽  
Idiopathic Pancreatitis ◽  
Gastrointestinal Manifestation ◽  
Myotonic Muscular Dystrophy

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

Properties of Ca2+-activated K+ channels in erythrocytes from patients with myotonic muscular dystrophy

1998 ◽  
Vol 21 (11) ◽  
pp. 1465-1472 ◽  
Author(s):  
Mario Pellegrino ◽  
Monica Pellegrini ◽  
Paolo Bigini ◽  
Annalisa Scimemi
Keyword(s):  
Muscular Dystrophy ◽  
K Channels ◽  
Myotonic Muscular Dystrophy

Red blood cell and fibroblast membranes in Duchenne and myotonic muscular dystrophy

1980 ◽  
Vol 3 (1) ◽  
pp. 36-54 ◽  
Author(s):  
Allen D. Roses ◽  
Geoffrey B. Hartwig ◽  
Michael Mabry ◽  
Yasuho Nagano ◽  
Sara E. Miller
Keyword(s):  
Muscular Dystrophy ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Myotonic Muscular Dystrophy

The Testis in Myotonic Muscular Dystrophy: A Clinical and Pathologic Study with a Comparison with the Klinefelter Syndrome1

1963 ◽  
Vol 23 (1) ◽  
pp. 59-75 ◽  
Author(s):  
WILLIAM D. DRUCKER ◽  
WILLIAM A. BLANC ◽  
LEWIS P. ROWLAND ◽  
MELVIN M. GRUMBACH ◽  
NICHOLAS P. CHRISTY
Keyword(s):  
Muscular Dystrophy ◽  
Pathologic Study ◽  
Myotonic Muscular Dystrophy

The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy

2000 ◽  
Vol 295 (3) ◽  
pp. 93-96 ◽  
Author(s):  
Takashi Kimura ◽  
Masanori P Takahashi ◽  
Yoshinobu Okuda ◽  
Misako Kaido ◽  
Harutoshi Fujimura ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Ion Channel ◽  
Skeletal Muscles ◽  
Myotonic Muscular Dystrophy

Muscle membrane protein kinase in myotonic muscular dystrophy

Nature ◽  
1974 ◽  
Vol 250 (5463) ◽  
pp. 245-247 ◽  
Author(s):  
ALLEN D. ROSES ◽  
STANELY H. APPEL
Keyword(s):  
Protein Kinase ◽  
Muscular Dystrophy ◽  
Membrane Protein ◽  
Muscle Membrane ◽  
Myotonic Muscular Dystrophy

Abnormal M-wave responses during exercise in myotonic muscular dystrophy: A Na+-K+ pump defect?

1991 ◽  
Vol 14 (1) ◽  
pp. 79-84 ◽  
Author(s):  
John Fenton ◽  
Scott Garner ◽  
Alan J. McComas
Keyword(s):  
Muscular Dystrophy ◽  
M Wave ◽  
Myotonic Muscular Dystrophy
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