• <em>POLG</em>-Related Disorders
• A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate
• A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies
• An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
• Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism
• Basal cell carcinomas in a young woman with Steinert's disease
• Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract
• Complex mitochondriopathy associated with 4 mtDNA transitions
• Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy
• Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy
• Familial congenital muscular dystrophy with gonadal dysgenesis
• Hereditary deafness in man
• Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism; a new syndrome
• Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31
• Hypotonia bulbi and gonadotropins in myotonic dystrophy
• Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
• Marinesco-Sjögren Syndrome
• Marinesco-Sjögren syndrome in a male with mild dysmorphism
• Mitochondriopathies
• Myopathy with trabecular fibers associated with familiar autoimmune polyglandular syndrome type 1
• Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations
• Myotonic dystrophy and its differential diagnosis
• Myotonic dystrophy type 2 and related myotonic disorders
• New case of Primrose syndrome with mild intellectual disability
• Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy
• Ocular myopathy with hypogonadism
• Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue
• Other autosomal recessive and childhood ataxias
• Progressive neuromuscular and skeletal disorders in a male with an acrocentric supernumerary chromosome
• Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
• THE ENDOCRINE CATARACTS
• The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging
• The Werner syndrome
• X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome