X-linked Myopathy With Excessive Autophagy

Late Onset Lysosomal Myopathies - Kenes Group
Late Onset Lysosomal Myopathies Toscano A, MD Department of Neurosciences, University of Messina, • X-linked myopathy with excessive autophagy myopathy (45%) Unspecific changes (25%) Increase glycogen ... Access Content

Long-term Management Of Children With Neuromuscular Disorders
X-linked myopathy with excessive autophagy 1 (1) Table 1 - Spectrum of neuromuscular diseases encountered in a pediatric muscle clinic (n = 170) Figure 1 - Age distribution of 200 children with neuromuscular conditions Children with neuromuscular disorders - Strehle EM ... Get Document

Talk:Myopathy, X-linked, with Excessive autophagy - Wikipedia ...
Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. ... Read Article

Danon Disease - Orpha
Not known but it seems to play an important role in autophagy. Danon disease is an X-linked disorder. The disease is extremely rare as about 15 male cases only have been proven to date. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Eur. J. Hum. Genet. 8, 125-129. ... Return Doc

University Of Tampere Neuromuscular Research Unit DNA-lab ...
University of Tampere Neuromuscular Research Unit DNA-lab / Finn-Medi 3, room 4-144 Phone: +358-50-3186286 X-linked myopathy with excessive autophagy (XMEA) (VMA21 gene defects) Congenital muscular dystrophy (LAMA2 gene defects) ... Get Document

Category:Muscular Disorders - Wikipedia, The Free Encyclopedia
Myopathy, X-linked, with excessive autophagy; Myositis; Myositis ossificans; Myostatin-related muscle hypertrophy; O. Orofacial myological disorders; P. Paratonia; Pelvic floor muscle disorder; Psoas muscle abscess; Pyomyositis; S. Sarcoglycanopathy; Sphincter paralysis; ... Read Article

VACUOLAR MYOPATHY - Medica
Kalimo (3) and the X-linked vacuolar myopathy (Danon disease). From pathogenic point of view Kalimo H, Savontaus ML, Lang H – X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol (1988),23: 258-265 ... Access Document

Marina Fanin Eva Masiero Corrado Angelini Marco Europe PMC ...
XMEA X-linked myopathy with excessive autophagy V-ATPase vacuolar-type H+-ATPase GAA-KO acid alpha-glucosidase-knockout PGC1α peroxisome proliferator-activated receptor gamma coactivator 1-alpha ERT enzyme replacement therapy ... Retrieve Here

Dr. Berge Minassian - Sickkids - Hospital
Dr. Berge Minassian Dr X‐linked Myopathy with Excessive Autophagy. His group has shown that this disease is Kissel JT, Minassian BA: Fine‐mapping the gene for X‐linked myopathy with excessive autophagy ... Retrieve Content

X-linked Myotubular myopathy In Rottweiler Dogs Is Caused By ...
X-linked myotubular myopathy in Rottweiler dogs is caused by a reported Labradors and similar human cases was the presence of excessive autophagy and prominent autophagic is X-linked myotubular myopathy (XLMTM) associated ... View Doc

Autophagy In Neuropathology - Springer
Autophagy in neuropathology Berge A. Minassian · Hannu Kalimo Published online: 4 February 2015 In X-linked myopathy with excessive autophagy (XMEA), the defect lies in impaired acidification of autolysosomes due to insufficiency of the ... Document Viewer

Dreifuss-Emery Muscular Dystrophy, X-linked
17330 Dreifuss-Emery muscular dystrophy, X-linked Eponyms: Inheritance: Group Sub group Signs: Semeiological Synthesis: Cestan-LeJonne disease 17565 myopathy, excessive autophagy 27954 scapulo-humeral muscular dystrophy 23310 scapulo-peroneal dystrophy ... Return Doc

Danon Disease
Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern where males are more severely affected than females. X-linked myopathy with excessive autophagy is a disorder similar to Danon disease. ... Retrieve Content

A 32 Year Old Male With Predominantly Distal Weakness ...
He was referred to us for consultation and a muscle biopsy to rule out an inflammatory myopathy or a glycogen storage myopathy. (right): atrophic, angular fibers with excessive NADH and non-specific esterase activity indicative of neurogenic atrophy. SMI 31: SMI 31 positive aggregates ... Retrieve Content

V-ATPase - Wikipedia, The Free Encyclopedia
X-linked myopathy with excessive autophagy (XMEA) X-linked myopathy with excessive autophagy is a rare genetic disease resulting from mutations in the VMA21 gene. [9] ... Read Article

Copyright © 2008 By AAN Enterprises, Inc. 4. Kalimo H ...
Cal findings in X-linked myopathy with excessive autoph-agy. X-linked myopathy with excessive autophagy. Neurology 2005;64:927–928. CORRECTION A 12-week, placebo-controlled study (6002-US-006) of istradefylline in Parkinson disease ... Retrieve Content

Lysosomal Myopathies - Scientific Information Database
Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile autophagic vacuolar myopathy, X-linked congenital autophagic vacuolar myopathy. Danon disease, an X-linked vacuolar cardiomyopathy and skeletal myopathy, ... Retrieve Doc

Www.uta.fi
X-linked myopathy with excessive autophagy (XMEA) ZASP-related myofibrillar myopathy Cardiomyopathy, dilated, 1C LOSMoN founder haplotype Gene Spinal muscular atrophy, distal, autosomal recessive, 5 (DSMA5) Type of analysis sequencing of exon 1 ... Access This Document

Cardiomyopathy. Acid Maltase Activity Of The Muscle Was ...
The clinical features of the patient are distinct from X‑linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late‑onset and multiorgan involvement (Kaneda). ... Retrieve Document