Übersetzung für 'LGMD' von Englisch nach Deutsch

limb-girdle muscle dystrophy <LGMD> [variant of: ... muscular ... ]

Gliedergürtel-Muskeldystrophie {f} <Gliedergürtel-MD>med.

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limb-girdle muscular dystrophy <LGMD>

Gliedergürteldystrophie {f}med.

Gliedergürtel-Muskeldystrophie {f} <Gliedergürtel-MD>med.

• Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), HyperCKemia, distal myopathy or rippling muscle disease (RMD).
• "CAPN3" mutation was the first gene mutation linked to an LGMD.
• Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018.
• In cell-based assays and in an animal model, kifunensine was found to be particularly suited to addressing LGMD 2D (R77C substitution), which has been diagnosed in patients in Europe, Africa, Japan and Brazil.
• Clinically, LGMD2L and MMD3 were considered different diseases before ANO5 was identified as the responsible gene; LGMD was used to describe initial weakness in proximal muscles (near the center of the body) while MMD to describe initial weakness in distal muscles.