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Items: 7

1.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
2.

Centronuclear myopathy

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. [from ORDO]

MedGen UID:
831410
Concept ID:
CN227554
Finding
3.

Centronuclear myopathy

MedGen UID:
880227
Concept ID:
CN235627
Finding
4.

Autosomal recessive centronuclear myopathy

Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.
[from GHR]

MedGen UID:
98049
Concept ID:
C0410204
Congenital Abnormality; Disease or Syndrome
5.

Myopathy, tubular aggregate, 2

MedGen UID:
862994
Concept ID:
C4014557
Disease or Syndrome
6.

MYOPATHY, TUBULAR AGGREGATE, 1

MedGen UID:
860163
Concept ID:
C4011726
Disease or Syndrome
7.

Mitochondrial myopathy with diabetes

MedGen UID:
333236
Concept ID:
C1839028
Disease or Syndrome
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