Page 167 - GPD-4-1

Gene & Protein in Disease Clinical findings of RYR1 mutation

Figure 1. Pedigree of the family. II-2, II-3, and III-7: unaffected carriers with heterozygous ryanodine receptor 1 (RYR1) c.115G>A variant. III-9: patient
with a homozygous RYR1 c.115G>A variant.

A B

C D E

Figure 2. Image of patient’s dysmorphic features. (A and B) The patient exhibited dysmorphic facial features such as relative macrocephaly, dolichocephaly,
posteriorly rotated ears, retrognathia, and a myopathic face. (C) Joint contractures were observed in the left hand. (D) Partial cutaneous syndactyly was
observed in the second and third toes of the left foot. (E) Clinodactyly was observed in the second, fourth, and fifth toes of both feet.

3. Discussion of the L-type Ca channels. The Ca release enables
2+
2+
the interaction between actin and myosin, leading to an
RYR1 encodes a ryanodine receptor that serves as a calcium increase in the Ca concentration in the cytosol, which
2+
9
release channel in the sarcoplasmic reticulum (SR). When initiates the movement of the myosin head. Maintaining
10
the membrane polarization changes, calcium ions (Ca ) appropriate extracellular and intracellular Ca levels is
2+
2+
are released from the SR, triggering muscle contraction crucial for muscle and bone development and function.
11
at the neuromuscular junction. This involves the opening Individuals with the multiminicore disease group present
Volume 4 Issue 1 (2025) 3 doi: 10.36922/gpd.4748