A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India

Nalini, Atchayaram; Polavarapu, Kiran; Sunitha, B.; Kulkarni, Sandhya Sadanand; Gayathri, Narayanappa; Bharath, MM Srinivas; Modi, Sailesh; Preethish‐Kumar, Veeramani

doi:10.4103/0028-3886.162048

Cited by 13 publications

(8 citation statements)

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“…On the contrary, distal involvement is frequently described in LGMD2G patients, sometimes also at early stages [6-14-19], especially in lower limbs, presenting with foot-drop and involvement of tibialis anterior muscles. As well as in our patient, this feature was predominant also in other subjects with LGMD2G [6][7][8][9][10][11][12][13][14][15][16][17]. Respiratory involvement or cardiomyopathy was not reported in both cases, consistently with the majority of previous reports; extrasystolia had been described only in the Turkish patient.…”

Section: Discussionsupporting

confidence: 91%

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa

Magri

Papadimitriou

et al. 2018

Neuromuscular Disorders

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Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities. Next generation sequencing analysis detected a homozygous frameshift mutation in the TCAP gene (c.90_91del), previously described in one Turkish family. Immunostaining and Western blot analysis showed complete absence of telethonin. Interestingly, Single Nucleotide Polymorphism analysis of the 10 Mb genomic region containing the TCAP gene showed a shared homozygous haplotype of both the Greek and the Turkish patients, thus suggesting a possible founder effect of TCAP gene c.90_91del mutation in this part of the Mediterranean area.

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Section: Discussionsupporting

confidence: 91%

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa

Magri

Papadimitriou

et al. 2018

Neuromuscular Disorders

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“…Other LGMDs have been infrequently reported from India,[78] and these are discussed below in brief. LGMD 2G known as telethoninopathy is caused by mutation in TCAP gene on chromosome 17q11-12.…”

Section: Other Limb-girdle Muscular Dystrophies In Indiamentioning

confidence: 99%

“…LGMD 2I clinically resembles severe Duchenne-like or milder late-onset Becker-like phenotypes. In large series by Nalini et al .,[78] 8 patients of LGMD 2G, 16 patients of LGMD 2I, 10 patients of LGMD 2K, 2 patients of LGMD 2H and 2J each have been detected, based on immunohistochemistry and Western blotting. LGMD 2 L is caused by mutations in the anoctamin-5 (ANO5) gene at 11p14.3.…”

Section: Other Limb-girdle Muscular Dystrophies In Indiamentioning

confidence: 99%

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Limb-girdle muscular dystrophies in India: A review

Khadilkar¹,

Faldu²,

Patil³

et al. 2017

Ann Indian Acad Neurol

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Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

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“…In contrast, LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles (Aoki, 1993) and is one of the major subtypes of LGMD. Although the exact prevalence is unknown, dysferlinopathy occupies approximately 20–30% of LGMD (Nalini et al, 2015; Seong et al, 2016; Tagawa et al, 2003) and 75% of distal myopathy (Tagawa et al, 2003) and is a frequent subtype, especially in Asian countries.…”

Section: Introductionmentioning

confidence: 99%

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

et al. 2020

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Dysferlinopathy is a group of autosomal recessive muscular dystrophies caused by variants in the dysferlin gene (DYSF), with variable proximal and distal muscle involvement. We performed DYSF gene analyses of 200 cases suspected of having dysferlinopathy (Cohort 1), and identified diagnostic variants in 129/200 cases, including 19 novel variants. To achieve a comprehensive genetic profile of dysferlinopathy, we analyzed the variant data from 209 affected cases from unrelated 209 families, including 80 previously diagnosed and 129 newly diagnosed cases (Cohort 2). Among the 90 types of variants identified in 209 cases, the NM_003494.3: c.2997G>T; p.Trp999Cys, was the most frequent (96/420; 22.9%), followed by c.1566C>G; p.Tyr522* (45/420; 10.7%) on an allele base. p.Trp999Cys was found in 70/209 cases (33.5%), including 20/104 cases (19.2%) with the Miyoshi muscular phenotype and 43/82 cases (52.4%) with the limb‐girdle phenotype. In the analysis of missense variants, p.Trp992Arg, p.Trp999Arg, p.Trp999Cys, p.Ser1000Phe, p.Arg1040Trp, and p.Arg1046His were located in the inner DysF domain, representing in 113/160 missense variants (70.6%). This large cohort highlighted the frequent missense variants located in the inner DysF domain as a hotspot for missense variants among our cohort of 209 cases (>95%, Japanese) and hinted at their potential as targets for future therapeutic strategies.

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A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India

Cited by 13 publications

References 0 publications

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Limb-girdle muscular dystrophies in India: A review

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

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