Limb-girdle Muscular Dystrophy - Diagnosis

Diagnosis

A muscle biopsy will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a patient has.

Currently a "CHIP" is being developed by an organization called "NMD CHIP"

The project is designing chips for the diagnosis of mutations already known to cause Duchenne / Becker muscular dystrophies (DMD/BMD), limb girdle muscular dystrophies (LGMD), congenital muscular dystrophies (CMD), and hereditary motor-sensory neuropathies or Charcot-Marie-Tooth neuropathies (CMT). These diagnostic chips are described as "known-gene chips".

A project website has been set up at www.nmd-chip.eu which enables dissemination of information about the project to stakeholders.

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