Distribution of muscle degeneration in Welander distal myopathy—A magnetic resonance imaging and muscle biopsy study

Åhlberg, Gabrielle; Jakobsson, Finnbogi; Fransson, Annette; Moritz, Ake; Borg, Kristian; Edström, Lars

doi:10.1016/0960-8966(94)90048-5

Cited by 25 publications

(7 citation statements)

References 39 publications

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“…The patterns of muscle involvement which we observed in WDM, are characterized by the involvement of the small muscles of the hands, while on the legs, both posterior an anterior compartments are affected. Our findings in WDM were concordant with those reported previously (14) as regards the involvement of gastrocnemius, soleus, TA and EDL. Nevertheless, our study showed frequent involvement of the proximal muscles too, such as biceps femoris, semitendinosus, semimembranosus and adductor magnus.…”

Section: Discussionsupporting

confidence: 93%

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy

et al. 2004

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Section: Discussionsupporting

confidence: 93%

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy

et al. 2004

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“…1 This paradoxical finding may reflect the relatively greater strength of the posterior leg muscles.…”

Section: Hereditary Distal Myopathiesmentioning

confidence: 97%

Clinical and genetic aspects of distal myopathies

Saperstein¹,

Amato²,

Barohn³

2001

Muscle and Nerve

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Although most muscle disorders produce proximal weakness, some myopathies may manifest predominantly or exclusively distal weakness. Although several congenital, inflammatory, or metabolic myopathies may produce mainly distal weakness, there are several distinct entities, typically referred to as distal myopathies. Most of these are inherited conditions. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Advances in molecular genetics have led to the identification of the gene lesions responsible for several of these entities and have also expanded our understanding of the genetic relationships of distal myopathies to other inherited disorders of muscle. This review summarizes current knowledge of the clinical and molecular aspects of the distal myopathies.

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“…degeneration of affected muscles with replacement lesions in the anterior compartment and frequently in the soleus and gastrocnemius muscles in the leg [96,104].…”

Section: Accepted M Manuscriptmentioning

confidence: 99%

Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top

Udd¹

2007

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease. Currently, the next steps are carried out to identify the molecular pathogenesis downstream of the gene defects. Some early ideas on what is going on in the muscle cells based on the defect proteins are emerging. However, in no single distal muscular dystrophy these efforts have yet reached the point where direct trials for therapy would have been launched, and in many distal dystrophies the causative gene is still lacking. When comparing the gene defects in the distal dystrophies with the more common proximal muscular dystrophies such as dystrophinopathies or limb-girdle muscular dystrophies, there is a striking difference: the genes for distal dystrophies encode sarcomere proteins whereas the genes for proximal dystrophies more often encode sarcolemmal proteins.

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Distribution of muscle degeneration in Welander distal myopathy—A magnetic resonance imaging and muscle biopsy study

Cited by 25 publications

References 39 publications

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy

Clinical and genetic aspects of distal myopathies

Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top

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