limb-girdle

Limb-girdle muscular dystrophy encompasses a large number of rare disorders.

At ten he was diagnosed with limb-girdle muscular dystrophy.

Finally, mutations in Dok-7 are commonly found in patients with limb-girdle congenital myasthenia.

When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling.

Based on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy.

It is associated with limb-girdle muscular dystrophy type LGMD2K.

In its most common form, Limb-girdle muscular dystrophy causes progressive weakness that begins in the hips and moves to the shoulders, arms, and legs.

Caveolin-3 has been implicated in the development of certain types of muscular dystrophy (Limb-girdle muscular dystrophy).

CAPN3: Calpain 3 (limb-girdle muscular dystrophy type 2A)

Common symptoms of limb-girdle muscular dystrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

Myotilin mutations cause a form of limb-girdle muscular dystrophy, and mutations in myopalladin cause an inherited form of heart disease (dilated cardiomyopathy).

The results of a Phase I clinical trial of gene therapy for limb-girdle muscular dystrophy type 2C were published in the journal Brain in January 2012.

The trial's participants included people afflicted with Facioscapulohumeral muscular dystrophy, Becker's muscular dystrophy, and Limb-girdle muscular dystrophy.

These dystrophies are collectively termed dysferlinopathy, and include Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1).

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy.

A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B).

Dysferlinopathy is characterized by progressive muscle wasting and is most often clinically diagnosed as Limb-girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi muscular dystrophy 1 (MMD1; a type of distal muscular dystrophy), depending on the initial pattern of muscle involvement at diagnosis.