LGMD2E patients risk developing dilated cardiomyopathy

Fanin, Marina; Melacini, Paola; Boito, C; Pegoraro, Elena; Angelini, C.

doi:10.1016/s0960-8966(02)00280-8

Cited by 71 publications

(49 citation statements)

References 28 publications

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“…One of these duplications (c.10 À22_10dup32) was previously reported by Boito and colleagues. 25,31 It is worth mentioning that the duplicated sequences identified in four of the five unrelated patients described in this study (Table 2), as well as the two previously reported ones, appear to be inserted at a potential common site: þ 10 downstream to the ATG start codon. Although the duplicated sequence, observed in the fifth patient of our study, was inserted at þ 4 downstream to the ATG start codon, all the duplicated sequences have a 5 0 end that corresponds to the sequence at À22 upstream to the 'A' of the start codon (Supplementary Figure 1).…”

Section: Sarcoglycan Gene Mutations M Trabelsi Et Alsupporting

confidence: 56%

“…Among the two other mutations there is also a third partial duplication of exon 1 (c.10 À22_10dup32) that has been previously reported. 25,31 Duplicated sequences were of different size (26,32, and 455 bp, as the third duplication encompasses exon 1 and its 3 0 end was not defined). Mutations in the g-SG gene were identified in12/48 patients (25%) ( Table 2).…”

Section: Distribution and Type Of Mutations Identified In Sg Genesmentioning

confidence: 99%

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Revised spectrum of mutations in sarcoglycanopathies

et al. 2008

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To define the spectrum of mutations in a-, b-, c-, and d-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. For 48 patients, muscle biopsies were available and multiplex western blot analysis of muscle proteins showed significant abnormalities of a-and c-SG. Our diagnostic strategy includes multiplex western blot, sequencing of SG genes, multiplex quantitative-fluorescent PCR and RT-PCR analyses. Mutations were detected in 57 patients and homozygous or compound heterozygous mutations were identified in 75% (36/48) of the patients with abnormal western blot, and in 52% (11/21) of the patients without muscle biopsy. Involvement of a-SG was demonstrated in 55.3% of cases (26/47), whereas c-and b-SG were implicated in 25.5% (12/47) and in 17% (8/47) of cases, respectively. Interestingly, we identified 25 novel mutations, and a significant proportion of these mutations correspond to deletions (identified in 14 patients) of complete exon(s) of a-or c-SG genes, and partial duplications (identified in 5 patients) of exon 1 of b-SG gene. This study highlights the high frequency of exonic deletions of a-and c-SG genes, as well as the presence of a hotspot of duplications affecting exon 1 of the b-SG gene. In addition, protein analysis by multiplex western blot in combination with mutation screening and genotyping results allowed to propose a comprehensive and efficient diagnostic strategy and strongly suggested the implication of additional genes, yet to be identified, in sarcoglycanopathy-like disorders.

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Section: Sarcoglycan Gene Mutations M Trabelsi Et Alsupporting

confidence: 56%

Section: Distribution and Type Of Mutations Identified In Sg Genesmentioning

confidence: 99%

Revised spectrum of mutations in sarcoglycanopathies

et al. 2008

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“…Symptoms onset usually occurs around 6 years old, with an age range from 1 to 30 years in all forms, except for LGMD2D, with first symptoms circa 13 years old 31,32 (Table 2). Clinical presentation is generally similar to dystrophinopathy with early predominant proximal weakness, frequent falls, Gowers maneuver, and rapid evolution to gait loss and cardiac complications 25 . Muscle enzymes are usually 5 to more than 40 times elevated 1,3 (Table 2).…”

Section: Sarcoglycanopathy (Lgmd2c Lgmd2d Lgmd2e Lgmd2f)mentioning

confidence: 99%

“…Adequate genetic counseling demands the correct identification of the specific inheritance pattern, either autosomal recessive or dominant (Table 1). Patients with sarcoglycanopathy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F), telethoninopathy (LGMD2G), and fukutin related proteinopathy (LGMD2I) present increased risk of cardiac complications 1,25 . Besides that, LGMD2I patients may present early respiratory insufficiency, even while still ambulating.…”

Section: Why Should We Perform the Differential Diagnosis Of Specificmentioning

confidence: 99%

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta¹,

Carvalho²,

da-Cunha-Júnior³

et al. 2014

Arq. Neuro-Psiquiatr.

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Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.Keywords: muscular dystrophies, ultrasonography, biopsy, magnetic resonance imaging, neuromuscular diseases. RESUMOAs distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.Palavras-chave: distrofias musculares, ultrassonografia, biópsia, imagem por ressonância magnética, doenças neuromusculares.

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“…Conduction defects have been evidenced in Duchenne muscular dystrophy [41,42], Becker muscular dystrophy [43,44], myotonic dystrophy type 1 and 2 [45,46], Emery-Dreifuss muscular dystrophy [47], and limb girdle muscular dystrophy [48,49].…”

Section: Pkcs and Muscular Dystrophiesmentioning

confidence: 99%

PKC Proteins and Muscular Dystrophy

Gobbi

Galli

Carubbi

et al. 2018

JFMK

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Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal and cardiac muscles. In the development of muscular dystrophies, several transduction pathways have been studied. A possible link between muscular dystrophies and PKCs have been recently proposed. After a brief description of the possible transduction pathways that are involved in the development of these genetic diseases, we summarize recent evidence on the role of PKC proteins in muscular dystrophies, with the aim to review possible candidates in molecular therapy of these pathologies.

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LGMD2E patients risk developing dilated cardiomyopathy

Cited by 71 publications

References 28 publications

Revised spectrum of mutations in sarcoglycanopathies

Revised spectrum of mutations in sarcoglycanopathies

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

PKC Proteins and Muscular Dystrophy

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