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Biomedical subjects

Bjarne Udd

Publications and source records attributed to Bjarne Udd.

28 records · Page 2Linked to original sources
PubMed2003

Tibial muscular dystrophy in a Belgian family.

We report a Belgian family with autosomal dominant, late-onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50-year-old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease-specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations.

Aged↗
PubMed2002

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the central sarcomeric protein, titin. We have previously shown a secondary calpain-3 defect to be associated with TMD, which further underscored that titin is the candidate. We now report the first mutations in TTN to cause a human skeletal-muscle disease, TMD. In Mex6, the last exon of TTN, a unique 11-bp deletion/insertion mutation, changing four amino acid residues, completely cosegregated with all tested 81 Finnish patients with TMD in 12 unrelated families. The mutation was not found in 216 Finnish control samples. In a French family with TMD, a Leu-->Pro mutation at position 293,357 in Mex6 was discovered. Mex6 is adjacent to the known calpain-3 binding site Mex5 of M-line titin. Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that we studied, thus implicating a functional defect of the M-line titin in the genesis of the TMD disease phenotype.

Amino Acid Sequence↗
PubMed2002

Electrophysiological findings in X-linked myopathy with excessive autophagy.

We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and 1 female carrier of X-linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X-linked myopathy with excessive autophagy from other limb-girdle myopathies.

Adolescent↗
PubMed2002

Welander distal myopathy outside the Swedish population: phenotype and genotype.

Welander distal myopathy is a late onset disorder that is mainly seen in Sweden. It is linked to chromosome 2p13 and all Swedish patients show a common shared haplotype, indicating a founder mutation. Here we report the clinical manifestations, magnetic resonance imaging, pathophysiology and haplotype analysis of Welander patients in the Finnish population. The clinical examination of patients from 12 different families showed a distal myopathy with onset in the long extensor muscles of the hands and fingers, also seen in Swedish Welander patients. Muscle biopsies showed characteristic myopathic changes. Haplotype analysis with the five polymorphic markers that make up the common core haplotype, seen in the Swedish patients, revealed that this haplotype is also co-segregating in the Finnish patients and a common ancestry is therefore further supported for patients with Welander distal myopathy.

Age of Onset↗