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2.) Some of the genetic defects that cause limb-girdle muscular dystrophies affect proteins in the membrane, such as the sarcoglycans, or proteins involved in membrane maintenance, such as dysferlin. LGMD2C, 2D, 2E and 2F are caused by sarcoglycan deficiencies, and LGMD2B is caused by a lack of the dysferlin protein.

2.) Some of the genetic defects that cause limb-girdle muscular dystrophies affect proteins in the membrane, such as the sarcoglycans, or proteins involved in membrane maintenance, such as dysferlin. LGMD2C, 2D, 2E and 2F are caused by sarcoglycan deficiencies, and LGMD2B is caused by a lack of the dysferlin protein.

The Rare Disease Report talked with a leader in the field of Limb-girdle muscular dystrophy research, Matthew Wicklund, MD of Penn State Hershey Medical, about our currently understanding of Limb-girdle muscular dystrophy and what the future holds.

The Rare Disease Report talked with a leader in the field of Limb-girdle muscular dystrophy research, Matthew Wicklund, MD of Penn State Hershey Medical, about our currently understanding of Limb-girdle muscular dystrophy and what the future holds.

How a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist.

The DIY Scientist, the Olympian, and the Mutated Gene How a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist. by David Epstein, ProPublica January 2016

Protein with Role in Muscular Dystrophies, and Therapeutic Potential, Identified #MuscularDystrophyNews

Protein with Role in Muscular Dystrophies, and Therapeutic Potential, Identified

Protein with Role in Muscular Dystrophies, and Therapeutic Potential, Identified #MuscularDystrophyNews

Common recessive limb girdle muscular dystrophies ❀ Until the publication of this article, 27 LGMD subtypes have been classified, and at least five additional entities are candidates for classification. From these 27 LGMD subtypes, 19 are autosomal recessive (more than 90% of the patients) and eight are autosomal dominant (less than 10% of the patients).

The name “calpain” derives from two words “calcium” and “papain”, describing its calcium activation and its homology to the protease enzymes similar to “papain” (the papaya’s proteolytic enzyme).

What I Want People to Know About Living With Limb-Girdle Muscular Dystrophy | Living With Limb-Girdle Muscular Dystrophy | The Mighty

What It's Like Living With Limb-Girdle Muscular Dystrophy

A young woman shares her experiences after being diagnosed with limb-girdle muscular dystrophy.

We're going to be making shirts available with this design soon! #LGMDawareness

We're going to be making shirts available with this design soon!

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