distal myopathies/asthenia

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Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

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Prijava / prijava

Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

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Prijava / prijava

Myotilin (MYOT) is a promising candidate gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM, also known as MPD2). Located within the minimum VCPDM candidate interval, myotilin mutations also cause a similarly progressive and adult-onset muscle disease. We examined myotilin in

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

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Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

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Prijava / prijava

Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum.

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Prijava / prijava

The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 disclosing heterogeneous clinicopathological features.We performed clinical, electrophysiological, MRI and muscle pathology studies in four SOD1

Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles.

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Two-dimensional echocardiography, cardiac catheterization, electrophysiologic studies, and biopsies of cardiac and skeletal muscle were performed in a patient with complete atrioventricular block as the initial manifestation of restrictive cardiomyopathy. The patient also showed distal myopathy with

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.

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Prijava / prijava

Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is characterized clinically by weakness and atrophy that initially involves the distal muscles and pathologically by the presence of rimmed vacuoles (RVs) or intracellular protein deposits in

[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].

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Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.

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Prijava / prijava

We investigated a four-generation family of German ancestry with distal myopathy. Four individuals in two generations were affected. Foot and toe extensor paresis progressing very slowly over decades was the core neurological sign, reflected by fatty infiltration of the lower leg extensor muscles on

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

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Prijava / prijava

OBJECTIVE To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). METHODS Three hundred eighty-six individuals

Two patients with distal muscular dystrophy and autonomic nerve dysfunction.

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Two female patients with distal muscular dystrophy (Miyoshi) are reported. Neurological examination revealed marked weakness and a low skin temperature of both lower legs, especially over the gastrocnemius muscle. Biopsy specimens of the anterior tibial muscle exhibited myopathological features

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.

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Prijava / prijava

Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

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Prijava / prijava

Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

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Prijava / prijava

Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an

Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?

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Prijava / prijava

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the

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