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Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da ...

Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos H...

Introduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology ...

Migration of an ancestral dysferlin splicing mutation from the Iberian peninsul...

Miyoshi myopathy, LGMD2B and DMAT are primary dysferlinopathies that belong to a group of muscular dystrophies inherited in an autosomal recessive mode. Additional presentations range from isolated hyperCKemia to severe functional disability. LGMD2B involves predominantly the proximal muscles of the lower limbs whereas in Miyoshi myopathy the muscles involved are those of the posterior muscle compartment of the...

Anoctamin 5: A New Candidate Gene For Portuguese Patients With Adult Onset Limb...

Introduction: The limb-girdle muscular dystrophies (LGMDs) show wide genetic and clinical heterogeneity. Recessive mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel of the anoctamin family, have been recently identified in families with LGMD type 2L and non-dysferlin distal muscular dystrophy (MMD3). The LGMD2L phenotype is characterized by proximal weakness, with prominent...