Genetic linkage of Welander distal myopathy to chromosome 2p13

hlberg, Gabrielle; Tell, Dsire Von; Borg, Kristian; Edstrm, Lars; Anvret, Maria

doi:10.1002/1531-8249(199909)46:3<399::aid-ana16>3.0.co;2-q

Cited by 51 publications

(29 citation statements)

References 33 publications

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“…The Welander form is the most common form in Sweden with a prevalence of up to 1 in 1000 [24], and also occurs in Finland [25], while only rare sporadic cases are seen in other countries (Lamont, unpublished observations). Welander myopathy is linked to a locus on 2p13 [26,27] but the responsible gene has yet to be identified. In Finland the tibial form of distal myopathy (Udd myopathy) occurs with a prevalence of approximately six per 100 000 and has been shown to be due to mutations in the gene encoding the giant sarcomeric protein titin on chromosome 2q31 [28].…”

Section: Late-onset Distal Myopathiessupporting

confidence: 70%

Distal myopathies

Mastaglia

Lamont

Laing

2005

Current Opinion in Neurology

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Section: Late-onset Distal Myopathiessupporting

confidence: 70%

Distal myopathies

Mastaglia

Lamont

Laing

2005

Current Opinion in Neurology

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“…It also has a later onset (symptoms of sporadic inclusion body myositis appear around age 50-55) (Askanas and Engel, 1998). Several forms of HIBM have been described under various names, each with its own clinical characteristics and ethnic cluster; two examples are Welander myopathy (MIM# 604454), a dominant inherited condition described in Scandinavia, mapping to chromosome 2p13 (Ahlberg et al, 1999) and autosomal dominant inclusion myopathy type 3 (MIM# 605637), reported in a Swedish family, carrying a missense mutation in the myosin heavy chain IIa gene, at chromosome 17p ( Martinsson et al, 2000). The most prominent prototype of the disease is an autosomal recessive form described in Jews from Persian descent (MIM# 600737) (Argov and Yarom, 1984;Sadeh and Argov, 1997) and later from other Jewish Middle Eastern origins which presents a very unique clinical feature, the sparing of the quadriceps.…”

Section: Introductionmentioning

confidence: 99%

Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps

et al. 2002

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Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP-N-acetylglucosamine 2 epimerase/Nacetylmannosamine kinase (GNE), as the mutated gene in the prototype form of the disease presenting quadriceps sparing, particularly common in Middle Eastern Jews. Interestingly, we have identified the homozygous M712T Middle Eastern Jewish mutation also in two unrelated Middle Eastern Moslem families. We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype. A total of 14 GNE mutations were identified (one nonsense and 13 missense), of which six are novel: an homozygous missense mutation in a consanguineous family from Italy and in a non consanguineous family from USA, and distinct compound heterozygotes in families from Germany, Italy, Ireland, Bahamas, USA and East India. This study brings to 17 the number of reported GNE mutations in quadriceps sparing myopathy, occurring either in the epimerase or the kinase domain of the enzyme. The mechanism leading to this unique phenotype still remains to be elucidated.

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“…Although WDM is mainly seen in Sweden, 12 Finnish families with onset in hands and fingers long extensor muscles were reported to co-segregate to chromosome 2p13 haplotype (15, 16). Proximal limb involvement rarely occurs in WDM even with advanced disease except in severe homozygous cases.…”

Section: Classic Distal Myopathiesmentioning

confidence: 99%

Distal Myopathies

Dimachkie

Barohn

2014

Neurologic Clinics

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Over a century ago, Gowers described two young patients in whom distal muscles weakness involved the hand, foot, sternocleidomastoid, and facial muscles in the other case the shoulder and distal leg musculature. Soon after, , similar distal myopathy cases were reported whereby the absence of sensory symptoms and of pathologic changes in the peripheral nerves and spinal cord at postmortem examination allowed differentiation from Charcot-Marie-Tooth disease. In 1951, Welander described autosomal dominant (AD) distal arm myopathy in a large Scandanavian cohort. Since then the number of well-characterized distal myopathies has continued to grow such that the distal myopathies have formed a clinically and genetically heterogeneous group of disorders. Affected kindred commonly manifest weakness that is limited to foot and toe muscles even in advanced stages of the disease, with variable mild proximal leg, distal arm, neck and laryngeal muscle involvement in selected individuals. An interesting consequence of the molecular characterization of the distal myopathies has been the recognition that mutation in a single gene can lead to more than one clinical disorder. For example, Myoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD) type 2B are allelic disorders due to defects in the gene that encodes dysferlin. The six well described distal myopathy syndromes are shown in Table 1. Table 2 lists advances in our understanding of the myofibrillar myopathy group and Table 3 includes more recently delineated and less common distal myopathies. In the same manner, the first section of this review pertains to the more traditional six distal myopathies followed by discussion of the myofibrillar myopathies. In the third section, we review other clinically and genetically distinctive distal myopathy syndromes usually based upon single or smaller family cohorts. The fourth section considers other neuromuscular disorders that are important to recognize as they display prominent distal limb weakness.

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Genetic linkage of Welander distal myopathy to chromosome 2p13

Cited by 51 publications

References 33 publications

Distal myopathies

Distal myopathies

Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps

Distal Myopathies

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