LIMB-GIRDLE MUSCULAR DYSTROPHY I

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Limb girdle muscular dystrophy, type 2L (LGMD2L) is one of the most common types of the autosomal recessive LGMDs in Europe and characterized by progressive, proximal weakness and atrophy of hip- and shoulder-girdle muscles. Axial muscle affection has not yet been investigated systematically in this patient group. Axial muscles are crucial for the stabilization and mobility of the spine. Involvement of these muscles may influence activities of daily living. To investigate the affection of the paraspinal muscles in LGMD2L-patients, Dixon MRI was performed in patients to quantify the fat fraction of muscle.

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