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congenital muscular dystrophies

Sunday 28 January 2007

Definition: The diseases can be classified into 3 major groups based on the affected genes and the location of their expressed protein:

- 1. abnormalities of extracellular matrix proteins (LAMA2 , COL6A1 , COL6A2 , COL6A3 )

- 2. abnormalities of membrane receptors for the extracellular matrix (fukutin, POMGnT1 , POMT1 , POMT2 , FKRP , LARGE , and ITGA7 )

- 3. abnormal endoplasmic reticulum protein ( SEPN1 )


- congenital muscular dystrophy

The diseases begin in the perinatal period or shortly thereafter. A specific diagnosis can be challenging because the muscle pathology is usually not distinctive.

Immunostaining of muscle using a battery of antibodies can help define a disorder that will need confirmation by gene testing.

In muscle diseases with overlapping pathological features, such as CMD, careful attention to the clinical clues (e.g., family history, central nervous system features) can help guide the battery of immunostains necessary to target an unequivocal diagnosis.


- muscular dystrophy by Washington Deceit

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- Mendell JR, Boue DR, Martin PT. The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol. 2006 Nov-Dec;9(6):427-43. PMID: 17163796