Muscular Diseases* ; Myopathies, Structural, Congenital*

Acupuncture Therapy ; Adult ; Humans ; Male ; Myopathies, Structural, Congenital ; therapy

We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.
Adult ; Biopsy ; Frozen Sections ; Genes, Dominant ; Genes, Recessive ; Human ; Korea ; Male ; Microscopy, Electron ; Microtubules/ultrastructure ; Mitochondria, Muscle/ultrastructure ; Muscle, Skeletal/pathology* ; Myopathies, Structural, Congenital/diagnosis ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology* ; Pedigree

BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS: Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. RESULTS: We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. CONCLUSIONS: These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.
Dynamin II ; Humans ; Lower Extremity ; Molecular Biology ; Muscles ; Myopathies, Structural, Congenital* ; Pathology

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality.
Child ; Extremities ; Female ; Humans ; Muscle Hypotonia ; Muscles ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia* ; Parturition ; Pathology

Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features and severity are quite variable. MTM is classified as three forms according to the inheritance pattern : autosomal dominant, autosomal recessive and X-linked recessive. The authors present familial myotubular myopathy, suggestive of X linked, occurred in a sibling with intrafamilial clinical variability.
Atrophy ; Humans ; Inheritance Patterns ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Pathology ; Siblings*

Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.
Age of Onset ; Female ; Human ; Middle Aged ; Myopathies, Structural, Congenital/genetics/*pathology ; Pedigree

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distaldominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies showa high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However,Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one ofthe most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and hisdaughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocularsymptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.
Contracture ; Dynamin II ; Dynamins* ; Humans ; Korea ; Muscular Atrophy ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia ; Prevalence

Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.
Humans ; Inheritance Patterns ; Muscle Weakness ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Pathology

Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear myopathy by muscle biopsy.
Biopsy ; Humans ; Male ; Muscle Cells ; Muscle Hypotonia ; Muscle Weakness ; Muscular Diseases ; Myopathies, Structural, Congenital*