Symposium on recent advances in diagnosis and therapy of neuromuscular diseasesThe phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
References (21)
- et al.
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region
Genomics
(1995) - et al.
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
Cell
(1995) - et al.
A large inbred Palestinian family with two forms of muscular dystrophy
Neuromusc Disord
(1992) Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies
Neuromusc Disorders
(1994)- et al.
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
Hum Molec Genet
(1994) - et al.
Report of the 30th and 31th ENMC international workshop—the limb-girdle muscular dystrophies, and proposal for a new nomenclature
Neuromusc Disord
(1995) - et al.
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data on small community living in the Reunion Island
Brain
(1996) Aids to the investigation of peripheral nerve injuries
(1976)Clinical examination of the neuromuscular system
Muscle biopsy. A practical approach
(1985)
Cited by (45)
Limb-girdle Muscular Dystrophies
2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's ApproachDysferlinopathies
2011, Handbook of Clinical NeurologyCitation Excerpt :Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy), but can present with proximal greater than distal weakness, similar to other limb-girdle muscular dystrophies (LGMD2B), and less commonly with anterior tibial weakness. Furthermore, patients may have any combination of proximal, anterior tibial, or posterior calf weakness (Illarioshkin et al., 1996; Mahjneh et al., 1996; Illa et al., 2001; Mahjneh et al., 2001; Suzuki et al., 2004). Occasional patients manifest with an axial myopathy with rigid spine syndrome or hyperkyphosis resembling bent spine syndrome.
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
2001, Neuromuscular DisordersReliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies
2012, NeurologyCitation Excerpt :In our study there were also numerous images that could fit with multiple muscular dystrophies and were virtually indistinguishable. In a large number of articles, muscle CT was used for pattern recognition.5–7,27,30–32 However, most of the recent articles have used MRI to study the involvement of specific muscles.7,10,17,18