14.6 POJA-L6173+6174 Centronuclear myopathy in skeletal muscle (human)
14.6 POJA-L6173+6174 Centronuclear myopathy in skeletal muscle
14.6 POJA-L6173+6174 Centronuclear myopathy in skeletal muscle (human)
(By courtesy of H. ter Laak PhD Section Neuropathology, retired staff member Department of Pathology, Radboud university medical center, Nijmegen The Netherlands)
Title: Centronuclear myopathy in skeletal muscle (human)
Description:
(A): Haematoxylin eosin stain, with green arrows pointing to centrally located nuclei in the muscle fibre.
(B): Lamin immunostaining visualising the nuclei. Blue arrows point to the central location of several nuclei.
Background:
Centronuclear myopathy (CNM) comprises a group of rare genetic muscle disorders, which are characterised by muscle weakness ranging from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual. Muscle fibre nuclei are normally located at the periphery of the muscle fibre. Centrally placed is an important finding to recognise in making a diagnosis of CNM. However, it is also postulated that a secondary migration of the nuclei to a central position occurred (Ven, v.d. P. et al. Postnatal centralization of muscle fibre nuclei in centronuclear myopathy Neuromuscular Disorders 1, 211-220, 1991, DOI: 10.1016/0960-8966(91)90027-p ).
Keywords/Mesh: locomotor system, skeletal muscle, striated muscle, neuromuscular disease, myopathy, centronuclear myopathy, nucleus, lamin, pathology, POJA collection
Title: Centronuclear myopathy in skeletal muscle (human)
Description:
(A): Haematoxylin eosin stain, with green arrows pointing to centrally located nuclei in the muscle fibre.
(B): Lamin immunostaining visualising the nuclei. Blue arrows point to the central location of several nuclei.
Background:
Centronuclear myopathy (CNM) comprises a group of rare genetic muscle disorders, which are characterised by muscle weakness ranging from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual. Muscle fibre nuclei are normally located at the periphery of the muscle fibre. Centrally placed is an important finding to recognise in making a diagnosis of CNM. However, it is also postulated that a secondary migration of the nuclei to a central position occurred (Ven, v.d. P. et al. Postnatal centralization of muscle fibre nuclei in centronuclear myopathy Neuromuscular Disorders 1, 211-220, 1991, DOI: 10.1016/0960-8966(91)90027-p ).
Keywords/Mesh: locomotor system, skeletal muscle, striated muscle, neuromuscular disease, myopathy, centronuclear myopathy, nucleus, lamin, pathology, POJA collection