A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

Dinçer, Pervin; Akçören, Zühal; Demir, Ercan; Richard, Isabelle; Sancak, Őzgür; Kale, Gülsev; Özme, Şencan; Karaduman, Aynur Ayşe; Tan, Eng Lee; Ja, Urtizberea; Beckmann, Jacques S.; Topaloǧlu, Haluk

doi:10.1136/jmg.37.5.361

Cited by 31 publications

(22 citation statements)

References 45 publications

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“…In our cohort, there are 93 families with cases diagnosed as LGMD2 and whose combined clinical and biochemical investigations have been completed [10,11,31]. The majority of these cases have been reported with entire clinical and genetic data.…”

Section: Patient Selection Criteria and Clinical Examinationmentioning

confidence: 95%

Calpain-3 mutations in Turkey

et al. 2006

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Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement of the proximal limb girdle muscles; the group includes at least 10 different genetic entities. The calpainopathies (LGMD2A), a subgroup of LGMD2s, are estimated to be the most common forms of LGMD2 in all populations so far investigated. LGMD2A is usually characterized by symmetrical and selective atrophy of pelvic, scapular and trunk muscles and a moderate to gross elevation of serum CK. However, the course is highly variable. It is caused by mutations in the CAPN3 gene, which encodes for the calpain-3 protein. Until now, 161 pathogenic mutations have been found in the CAPN3 gene. In the present study, through screening of 93 unrelated LGMD2 families, we identified 29 families with LGMD2A, 21 (22.6%) of which were identified as having CAPN3 gene mutations. We detected six novel (p.K211N, p.D230G, p.Y322H, p.R698S, p.Q738X, c.2257delGinsAA) and nine previously reported mutations (c.550delA, c.19_23del, c.1746-20C>G, p.R49H, p.R490Q, p.Y336N, p.A702V, p.Y537X, p.R541Q) in the CAPN3 gene. There may be a wide variety of mutations, but clustering of specific mutations (c.550delA: 40%, p.R490Q: 10%) could be used in the diagnostic scheme in Turkey.

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Section: Patient Selection Criteria and Clinical Examinationmentioning

confidence: 95%

Calpain-3 mutations in Turkey

et al. 2006

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“…In this study, we have also highlighted the patterns of genetic complexity associated with LGMD-2C encountered during the process of differential diagnosis of muscular dystrophies (18).…”

Section: Discussionmentioning

confidence: 99%

Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2c

Diniz¹,

Hazan²,

Yıldırım³

et al. 2014

TJPATH

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“…An interesting feature of the dysferlinopathies comprises phenotypic heterogeneity, in that the same mutation can cause different phenotypes in unrelated patients (Vilchez et al, 2005;Dincer et al, 2000), as well as in different members of an affected family (Ueyama et al, 2002;Chiba et al, 2003).…”

Section: Introductionmentioning

confidence: 96%

Dysferlin Homozygous Mutation G1418D Causes Limb-Girdle Type 2B in a Mexican Family

et al. 2007

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Dysferlin protein (DYSF) is a ferlin family member found in sarcolemma and is involved in membrane repair, muscle differentiation, membrane fusion, etc. The deficiency of DYSF due to mutations is associated with different pathologic phenotypes including the autosomal recessive limb-girdle type 2B phenotype (LGMD2B), a distal anterior compartment myopathy (DMAT), and the Miyoshi myopathy (MM). In this study, we determined a missense mutation c.4253G>A on the DYSF gene in a Mexican family from an endogamic population. This mutation was assumed to be the cause of dystrophy because only homozygous individuals of the family manifest a clinical phenotype. Structural implications caused by G/D substitution at amino acid position 1418 are discussed in terms of potential importance of the dysferlin neighboring sequence.

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A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

Cited by 31 publications

References 45 publications

Calpain-3 mutations in Turkey

Calpain-3 mutations in Turkey

Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2c

Dysferlin Homozygous Mutation G1418D Causes Limb-Girdle Type 2B in a Mexican Family

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