Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

Authors :: Kolski HK
Hawkins C
Zatz M
de Paula F
Biggar D
Alman B
Vajsar J
Source :: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2008 Jun; Vol. 28 (3), pp. 264-8. Date of Electronic Publication: 2007 Nov 20.
Publication Year :: 2008
Abstract: The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemical methods should be re-evaluated for the screening of undiagnosed patients with suspected LGMD 2A.

Subjects :: Adolescent
Blotting, Western
Child
Humans
Male
Muscular Dystrophies, Limb-Girdle genetics
Muscular Dystrophies, Limb-Girdle physiopathology
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Calpain metabolism
Immunohistochemistry
Muscle Proteins metabolism
Muscular Dystrophies, Limb-Girdle diagnosis

Language :: English
ISSN :: 0919-6544
Volume :: 28
Issue :: 3
Database :: MEDLINE
Journal :: Neuropathology : official journal of the Japanese Society of Neuropathology
Publication Type :: Academic Journal
Accession number :: 18031465
Full Text :: https://doi.org/10.1111/j.1440-1789.2007.00871.x

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