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Distal Myopathy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Distal Myopathy" returned 2 free, full-text review articles. First 2 results:
[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].
Last Updated: Sep 02, 2015

Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused ...

[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles].
Last Updated: Nov 21, 2013

Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disease that typically affects tibialis anterior and hamstring muscles in young adults although other muscles are also involved in later stages. The disease is caused ...

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].
Last Updated: Nov 16, 2017

We present an overview of autosomal recessive distal muscular dystrophy (ARDMD), including recent molecular genetic findings. ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). The onset of MDMD occurs in early adulthood. Muscle atrophy ...

Full PubMed Review articles matches at NCBI:
2 Free Review Articles 15 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Distal Myopathy" returned 1 free, full-text editorial articles. First 1 results:
Full PubMed Editorials matches at NCBI:
1 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Distal Myopathy" returned 54 free, full-text research articles. First few results:
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Last Updated: Dec 18, 2019

GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of a founder mutation GNE: p. M712T. We report a 52-year-old ...

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.
Last Updated: Jul 01, 2019

Distal myopathies are a clinically and genetically heterogeneous group characterized by distal weakness at onset. Distal myopathies are classified according to age of onset, inheritance pattern, clinical features and molecular diagnosis. Inclusion body myopathy with early-onset Paget ...

Slowly progressive distal muscle weakness: neuropathy or myopathy?
Last Updated: Aug 05, 2019

Nonaka myopathy is an autosomal recessive and slowly progressive distal myopathy. It is part of a rare group of myopathies predominantly affecting the distal limb musculature. Over 150 cases have been reported across the Middle East, Japan and Europe. We report the case of a 33-year-old ...

Full PubMed Research articles matches at NCBI:
54 Free Research Articles 220 Research Articles