The first European family with tibial muscular dystrophy outside the Finnish population

Sèze, Jérôme De; Udd, Bjarne; Haravuori, Henna; Sablonnière, B.; Maurage, Claude Alain; Hurtevent, J. F.; Boutry, Nathalie; Stojkovic, T.; Schraen, Susanna; Petit, H; Vermersch, P.

doi:10.1212/wnl.51.6.1746

Cited by 37 publications

(17 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This founder mutation is called FINmaj and it consists of an 11-bp deletion/insertion mutation that changes four amino acid residues [12]. Other mutations were later identified in families from different European populations, such as in French [3] and Belgian populations [4], and recently two new mutations in different parts of France and one new mutation in two families from Spain [5] (Table 1). Homozygous TMD causing mutations in the titin gene cause the more severe limb-girdle muscular dystrophy type 2J (LGMD2J) [6].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Pollazzon

Suominen²,

Penttilä³

et al. 2009

J Neurol

View full text Add to dashboard Cite

Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in the anterior compartment of leg muscles. Her 67 year-old brother, started to show muscle weakness, pain at lower limbs and hypertrophy of calf muscles at the age of 66 years. Their mother began to show foot drop and impaired walking from the age of 60 years. Other relatives are reported to be affected in a similar way. Because the phenotype appeared compatible with TMD, we analyzed the TTN gene in the DNA of the proband and we identified a heterozygous mutation 293326A>C. This mutation is also present in the brother and in the other affected individuals of the same family. The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. The mutation was not found in 100 Italian control DNA samples. Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients. No other disease causing mutations in the TTN gene have so far been reported in the Italian population.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Afterwards, it was described also in French [3] and Belgian families [4]. Recently Hackman et al have identified three new mutations in families from Spain and France [5].…”

Section: Introductionmentioning

confidence: 96%

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Pollazzon

Suominen²,

Penttilä³

et al. 2009

J Neurol

View full text Add to dashboard Cite

show abstract

“…Some recent articles reporting rimmed vacuoles also describe 15-19-nm cytoplasmic and nuclear filaments, seen on electron microscopy. 22,63 Such filaments can be found in a number of other myopathies, such as inclusion-body myositis (IBM), and are not specific for any particular disorder ( 30,70,107,113,116 This group shares a distinct clinical phenotype, comprising weakness beginning in the anterior compartment of the legs, and is often referred to as tibial muscular dystrophy. Symptoms begin after age 40 years.…”

Section: Hereditary Distal Myopathiesmentioning

confidence: 99%

“…A French family with progressive anterior tibial weakness and atrophy beginning in the fifth to sixth decades has also been linked to the 2q31 locus. 30 Titin (connectin) is a possible candidate gene for this disorder. 112 Titin is a large protein present in vertebral striated muscle cells that appears to play important roles in sarcomere assembly and integrity.…”

Section: Hereditary Distal Myopathiesmentioning

confidence: 99%

Clinical and genetic aspects of distal myopathies

Saperstein¹,

Amato²,

Barohn³

2001

Muscle and Nerve

View full text Add to dashboard Cite

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.

show abstract

“…Moreover severe myopathy with lethal cardiomyopathy and recessive congenital myopathy were shown to be titinopathies [12][13][14]. Several reports have described TMD in patients outside Finland [15][16][17][18], and recently atypical phenotypes in patients with FINmaj mutation were reported to have a second TTN mutation in compound heterozygosity [19].…”

Section: Introductionmentioning

confidence: 99%

Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis

Dabby

Sadeh

Hilton‐Jones

et al. 2015

Journal of the Neurological Sciences

View full text Add to dashboard Cite

The first European family with tibial muscular dystrophy outside the Finnish population

Cited by 37 publications

References 8 publications

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Clinical and genetic aspects of distal myopathies

Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis

Contact Info

Product

Resources

About