Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046]

The Limb-Girdle Muscular Dystrophies (LGMD) are genetically heterogeneous disorders, responsible for muscle wasting and severe form of dystrophies. Despite the critical developments in the insight and information of pathomechanisms of limb-girdle muscular dystrophy, any definitive treatments do not exist, and current strategies are only based on the improvement of the signs of disorder and to enhance the life quality without resolving an underlying cause. There is a crucial relationship between pharmacological therapy and different consequences; therefore, other treatment strategies will be required. New approaches, such as gene replacement, gene transfer, exon skipping, siRNA knockdown, and anti-myostatin therapy, which can target specific cellular or molecular mechanism of LGMD, could be a promising avenue for the treatment. Recently, genome engineering strategies with a focus on molecular tools such as CRISPR-Cas9 are used to different types of neuromuscular disorders and show the highest potential for clinical translation of these therapies. Thus, recent advancements and challenges in the field will be reviewed in this paper.

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

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20140110 ◽

2014 ◽

Vol 72 (9) ◽

pp. 721-734 ◽

Cited By ~ 11

Author(s):

Ana Cotta ◽

Elmano Carvalho ◽

Antonio Lopes da-Cunha-Júnior ◽

Júlia Filardi Paim ◽

Monica M. Navarro ◽

...

Keyword(s):

Differential Diagnosis ◽

Muscular Dystrophy ◽

Muscle Biopsy ◽

Neuromuscular Disorders ◽

Limb Girdle Muscular Dystrophy ◽

Muscular Dystrophies ◽

Muscle Involvement ◽

Respiratory Management ◽

Diagnostic Flowchart ◽

And Function

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.

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