Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have been described so far. Accurate diagnosis is crucial because of the possibility of a supplementation treatment with proven efficacy. Here we describe 4 new patients (3 additional families) originating from the same world region (Algeria, Maghreb). All patients, born form consanguineous parents, were homozygous carriers of the same intronic variation, outside of canonical sites, in the SLC5A6 gene encoding SMVT. RNA study in one family allowed confirming the pathogenic effect of the variation an...
Abstract Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene t...
Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic d...
Les dystrophies rétiniennes héréditaires (DRH) et les neuropathies optiques héréditaires (NOH) sont ...
Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-res...
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and medi...
Introduction. Biotin (vitamin B7) is indispensable for normal cellular metabolism due to involvement...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Purpose: Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence w...
Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease. T...
Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized b...
Background and purpose: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spast...
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized ...
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously report...
International audienceBackground and aims: The identification of underlying genes of genetic conditi...
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyo...
Abstract Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene t...
Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic d...
Les dystrophies rétiniennes héréditaires (DRH) et les neuropathies optiques héréditaires (NOH) sont ...
Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-res...
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and medi...
Introduction. Biotin (vitamin B7) is indispensable for normal cellular metabolism due to involvement...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Purpose: Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence w...
Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease. T...
Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized b...
Background and purpose: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spast...
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized ...
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously report...
International audienceBackground and aims: The identification of underlying genes of genetic conditi...
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyo...
Abstract Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene t...
Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic d...
Les dystrophies rétiniennes héréditaires (DRH) et les neuropathies optiques héréditaires (NOH) sont ...